ClinVar Miner

List of variants reported as likely pathogenic for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (409):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 645
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000751.3(CHRND):c.821-2A>C rs762875734 0.00014
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_012414.4(RAB3GAP2):c.713-2A>G rs797045103 0.00007
NM_000193.4(SHH):c.676G>A (p.Ala226Thr) rs104894043 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001360.3(DHCR7):c.92G>A (p.Arg31His) rs370307688 0.00006
NM_014141.6(CNTNAP2):c.3716-2A>G rs746894028 0.00006
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys) rs121909066 0.00005
NM_000751.3(CHRND):c.1252+1G>A rs1285705072 0.00004
NM_001330078.2(NRXN1):c.772+1032G>A rs771759988 0.00004
NM_176787.5(PIGN):c.2354G>A (p.Arg785His) rs535563062 0.00004
NM_198525.3(KIF7):c.1443+2T>C rs751900799 0.00004
NM_198525.3(KIF7):c.328+2T>G rs781752990 0.00004
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp) rs145043679 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_152564.5(VPS13B):c.7248-1G>A rs763079458 0.00003
NM_000751.3(CHRND):c.127C>T (p.Arg43Trp) rs55868108 0.00002
NM_001367561.1(DOCK7):c.4380-1G>T rs774949595 0.00002
NM_015937.6(PIGT):c.188-2A>G rs771691280 0.00002
NM_000079.4(CHRNA1):c.779-1_779insA rs771260711 0.00001
NM_000751.3(CHRND):c.243+1G>A rs751237539 0.00001
NM_001101.5(ACTB):c.478A>G (p.Thr160Ala) rs1784814961 0.00001
NM_001291415.2(KDM6A):c.3366-1G>A rs1374292312 0.00001
NM_001330078.2(NRXN1):c.772+1133T>C rs1476850082 0.00001
NM_001330078.2(NRXN1):c.832+1G>A rs764621123 0.00001
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) rs371302153 0.00001
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His) rs142213147 0.00001
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter) rs1555145605 0.00001
NM_001360.3(DHCR7):c.1221C>A (p.Asn407Lys) rs1481450955 0.00001
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro) rs1354718634 0.00001
NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu) rs781687341 0.00001
NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095 0.00001
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser) rs1478872904 0.00001
NM_001360.3(DHCR7):c.412+3A>T rs786200926 0.00001
NM_001360.3(DHCR7):c.413-2A>G rs775575609 0.00001
NM_001360.3(DHCR7):c.627-1G>A rs1057517210 0.00001
NM_001360.3(DHCR7):c.727C>T (p.Pro243Ser) rs1329227520 0.00001
NM_001360.3(DHCR7):c.831+2T>A rs1057516920 0.00001
NM_001367561.1(DOCK7):c.819-1G>A rs763358033 0.00001
NM_014846.4(WASHC5):c.2505-1G>C rs953586472 0.00001
NM_015937.6(PIGT):c.550G>A (p.Glu184Lys) rs774753616 0.00001
NM_022552.5(DNMT3A):c.2478+1G>A rs762213449 0.00001
NM_058179.4(PSAT1):c.976G>T (p.Glu326Ter) rs199998249 0.00001
NM_080632.3(UPF3B):c.846+1G>A rs373920032 0.00001
NM_138425.4(C12orf57):c.52+1G>T rs782640048 0.00001
NM_138425.4(C12orf57):c.53-1G>A rs374836404 0.00001
NM_152564.5(VPS13B):c.10061+1G>A rs1200459145 0.00001
NM_152564.5(VPS13B):c.10867+1G>A rs780902262 0.00001
NM_152564.5(VPS13B):c.147+1G>A rs1057517029 0.00001
NM_152564.5(VPS13B):c.2824+2T>C rs141703746 0.00001
NM_152564.5(VPS13B):c.3082+2T>C rs1188811827 0.00001
NM_152564.5(VPS13B):c.3083-2A>C rs1456528242 0.00001
NM_152564.5(VPS13B):c.4746-1G>C rs768342041 0.00001
NM_152564.5(VPS13B):c.4949+2T>C rs761273297 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 0.00001
NM_152564.5(VPS13B):c.8097+1G>A rs1813590716 0.00001
NM_152564.5(VPS13B):c.8792+1G>T rs1415714103 0.00001
NM_176787.5(PIGN):c.344-1G>T rs776568529 0.00001
NM_176787.5(PIGN):c.805+2T>C rs2036353930 0.00001
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763 0.00001
NM_198525.3(KIF7):c.1561-1G>A rs763238645 0.00001
NC_000001.10:g.(?_220345211)_(220375736_?)dup
NC_000002.11:g.(?_233396141)_(233398358_?)del
NC_000002.11:g.(?_50692560)_(50780183_?)dup
NC_000002.11:g.(?_50724523)_(50808051_?)del
NC_000002.11:g.(?_50750595)_(50765696_?)del
NC_000002.11:g.(?_50847140)_(50850773_?)dup
NC_000002.11:g.(?_50847140)_(51153113_?)dup
NC_000002.11:g.(?_50850729)_(50947381_?)del
NC_000002.11:g.(?_51107396)_(51255135_?)del
NC_000002.12:g.(?_50236769)_(50346969_?)dup
NC_000005.10:g.(?_37045443)_(37048675_?)del
NC_000005.9:g.(?_37045525)_(37048797_?)del
NC_000005.9:g.(?_37057268)_(37061140_?)del
NC_000007.13:g.(?_146471343)_(146537016_?)dup
NC_000007.13:g.(?_146536783)_(146537016_?)dup
NC_000007.13:g.(?_146740979)_(146741166_?)dup
NC_000007.13:g.(?_146740979)_(146829621_?)dup
NC_000007.13:g.(?_146740989)_(146997392_?)dup
NC_000007.13:g.(?_147183007)_(147259369_?)dup
NC_000007.13:g.(?_147183017)_(147183143_?)dup
NC_000007.13:g.(?_147600637)_(147600833_?)dup
NC_000007.13:g.(?_147964105)_(147964238_?)dup
NC_000007.14:g.(?_146774251)_(146774401_?)del
NC_000007.14:g.(?_147977842)_(147978009_?)dup
NC_000008.10:g.(?_100050631)_(100128122_?)dup
NC_000008.10:g.(?_100050631)_(100287502_?)dup
NC_000008.10:g.(?_100050713)_(100057034_?)del
NC_000008.10:g.(?_100108520)_(100205305_?)dup
NC_000008.10:g.(?_100108530)_(100182401_?)dup
NC_000008.10:g.(?_100123306)_(100133735_?)dup
NC_000008.10:g.(?_100133385)_(100160258_?)dup
NC_000008.10:g.(?_100157931)_(100160219_?)del
NC_000008.10:g.(?_100162579)_(100168929_?)del
NC_000008.10:g.(?_100205094)_(100205295_?)dup
NC_000008.10:g.(?_100205094)_(100287492_?)dup
NC_000008.10:g.(?_100286406)_(100287502_?)del
NC_000008.10:g.(?_100396426)_(100479872_?)dup
NC_000008.10:g.(?_100403765)_(100403952_?)dup
NC_000008.10:g.(?_100443745)_(100533258_?)dup
NC_000008.10:g.(?_100443755)_(100443902_?)dup
NC_000008.10:g.(?_100479254)_(100479653_?)del
NC_000008.10:g.(?_100515082)_(100516199_?)del
NC_000008.10:g.(?_100515082)_(100589871_?)del
NC_000008.10:g.(?_100568668)_(100673729_?)dup
NC_000008.10:g.(?_100654029)_(100654736_?)dup
NC_000008.10:g.(?_100673562)_(100847986_?)dup
NC_000008.10:g.(?_100711743)_(100712170_?)del
NC_000008.10:g.(?_100778144)_(100779154_?)del
NC_000008.10:g.(?_100781239)_(100789156_?)del
NC_000008.10:g.(?_100790890)_(100836226_?)dup
NC_000008.10:g.(?_100821583)_(100821778_?)del
NC_000008.10:g.(?_100821603)_(100821758_?)del
NC_000008.10:g.(?_100882993)_(100883945_?)dup
NC_000008.10:g.(?_126079753)_(126096155_?)del
NC_000008.11:g.(?_99134631)_(99511512_?)dup
NC_000008.11:g.(?_99192876)_(99209768_?)dup
NC_000008.11:g.(?_99209582)_(99275264_?)del
NC_000009.11:g.(?_140605399)_(140652483_?)dup
NC_000009.11:g.(?_140605409)_(140605492_?)dup
NC_000009.11:g.(?_140657107)_(140685442_?)dup
NC_000009.12:g.(?_137743351)_(137744110_?)dup
NC_000009.12:g.(?_137790828)_(137790990_?)del
NC_000009.12:g.(?_137790828)_(137818158_?)del
NC_000011.9:g.(?_71146411)_(71152496_?)del
NC_000012.11:g.(?_49419036)_(49424698_?)del
NC_000015.9:g.(?_90173498)_(90188702_?)dup
NC_000016.10:g.(?_3744874)_(3758992_?)del
NC_000016.10:g.89274957_89274959del
NC_000016.9:g.(?_3786017)_(3786836_?)dup
NC_000016.9:g.(?_3786631)_(3790570_?)dup
NC_000016.9:g.(?_3829526)_(3830870_?)del
NC_000016.9:g.(?_89346276)_(89348939_?)del
NC_000018.9:g.(?_59755969)_(59763203_?)dup
NC_000018.9:g.(?_59755969)_(59770155_?)dup
NC_000018.9:g.(?_59772865)_(59775077_?)del
NC_000018.9:g.(?_59819870)_(59824935_?)del
NC_000020.10:g.(?_33044890)_(33049935_?)del
NC_000021.8:g.(?_38868400)_(38884854_?)del
NC_000021.9:g.(?_37492997)_(37493183_?)del
NC_000022.10:g.(?_41531797)_(41566595_?)dup
NC_000022.10:g.(?_41566450)_(41572658_?)del
NC_000023.10:g.(?_152959003)_(152959194_?)del
NC_000023.10:g.(?_71681834)_(71715138_?)dup
NM_000079.4(CHRNA1):c.189+1G>A
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val) rs137852805
NM_000079.4(CHRNA1):c.778+2T>A
NM_000193.4(SHH):c.1037C>T (p.Ala346Val) rs2117126655
NM_000193.4(SHH):c.300+2T>C rs1584805934
NM_000193.4(SHH):c.596_604del (p.Phe199_Gly201del) rs2117128881
NM_000751.3(CHRND):c.423G>C (p.Trp141Cys)
NM_000751.3(CHRND):c.509+1G>A
NM_000751.3(CHRND):c.510-1G>T
NM_000751.3(CHRND):c.866C>T (p.Ser289Phe) rs121909502
NM_000751.3(CHRND):c.932+2T>A
NM_000751.3(CHRND):c.933-2A>G rs1064795719
NM_001083962.2(TCF4):c.1147-2A>G rs2145503668
NM_001083962.2(TCF4):c.146-1G>A
NM_001083962.2(TCF4):c.1469C>G (p.Pro490Arg) rs1555722023
NM_001083962.2(TCF4):c.1486+1G>T rs2048816852
NM_001083962.2(TCF4):c.1486+5del
NM_001083962.2(TCF4):c.1619A>G (p.Asp540Gly) rs1568329461
NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp)
NM_001083962.2(TCF4):c.1721A>T (p.Asn574Ile)
NM_001083962.2(TCF4):c.1727G>T (p.Arg576Leu) rs1057521070
NM_001083962.2(TCF4):c.1732C>A (p.Arg578Ser)
NM_001083962.2(TCF4):c.1771C>T (p.Leu591Phe) rs2047107163
NM_001083962.2(TCF4):c.1772T>C (p.Leu591Pro) rs2047106597
NM_001083962.2(TCF4):c.178G>A (p.Gly60Arg) rs2144897134
NM_001083962.2(TCF4):c.329C>T (p.Ser110Leu)
NM_001083962.2(TCF4):c.550-12_550-2del rs2146265987
NM_001083962.2(TCF4):c.550-1G>A rs1601260508
NM_001083962.2(TCF4):c.655+1G>A rs587784465
NM_001083962.2(TCF4):c.991-1del rs2145681074
NM_001083962.2(TCF4):c.998C>T (p.Ser333Phe) rs2057699910
NM_001101.5(ACTB):c.1021A>G (p.Ile341Val) rs886041305
NM_001101.5(ACTB):c.1097dup (p.Ser368fs) rs1554329078
NM_001101.5(ACTB):c.113C>T (p.Pro38Leu) rs1554329646
NM_001101.5(ACTB):c.143G>A (p.Gly48Asp) rs886041268
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr) rs1562720119
NM_001101.5(ACTB):c.220G>A (p.Gly74Ser) rs587779770
NM_001101.5(ACTB):c.323C>A (p.Ala108Asp) rs1411316425
NM_001101.5(ACTB):c.511C>T (p.Leu171Phe)
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) rs1554329317
NM_001101.5(ACTB):c.7_8delinsTT (p.Asp3Phe) rs1784841235
NM_001291415.2(KDM6A):c.1581+1G>T rs1602799769
NM_001291415.2(KDM6A):c.1683+1G>T
NM_001291415.2(KDM6A):c.2079+1G>A
NM_001291415.2(KDM6A):c.3094+2T>C rs1569537333
NM_001291415.2(KDM6A):c.3300+1G>A rs1602928572
NM_001291415.2(KDM6A):c.3301-2A>G rs1195711941
NM_001291415.2(KDM6A):c.334+1G>A
NM_001291415.2(KDM6A):c.3614G>A (p.Cys1205Tyr) rs1556350571
NM_001291415.2(KDM6A):c.3740C>T (p.Pro1247Leu) rs1602985802
NM_001291415.2(KDM6A):c.4034+3_4034+6del
NM_001291415.2(KDM6A):c.619_619+1dup
NM_001330078.2(NRXN1):c.1134+1G>A
NM_001330078.2(NRXN1):c.1135-1G>T
NM_001330078.2(NRXN1):c.1135-2A>G rs1679958581
NM_001330078.2(NRXN1):c.1158+23T>G
NM_001330078.2(NRXN1):c.1759+2T>C rs2105344238
NM_001330078.2(NRXN1):c.2374+1G>C
NM_001330078.2(NRXN1):c.3070+1G>A
NM_001330078.2(NRXN1):c.3364+1G>A
NM_001330078.2(NRXN1):c.833-2A>C
NM_001347721.2(DYRK1A):c.1235G>A (p.Arg412His) rs202011970
NM_001347721.2(DYRK1A):c.301-2A>C
NM_001347721.2(DYRK1A):c.476G>T (p.Gly159Val) rs1064796406
NM_001347721.2(DYRK1A):c.490-1G>C
NM_001347721.2(DYRK1A):c.637+2_637+13del
NM_001347721.2(DYRK1A):c.925-1G>C rs2148619382
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro) rs1317526744
NM_001360.3(DHCR7):c.1040G>T (p.Gly347Val)
NM_001360.3(DHCR7):c.1084C>G (p.Arg362Gly) rs371302153
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser) rs61757582
NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly) rs61757582
NM_001360.3(DHCR7):c.1211G>A (p.Arg404His) rs1949268223
NM_001360.3(DHCR7):c.1211G>T (p.Arg404Leu)
NM_001360.3(DHCR7):c.1223A>T (p.Tyr408Phe) rs1219026826
NM_001360.3(DHCR7):c.1294T>C (p.Tyr432His) rs747656720
NM_001360.3(DHCR7):c.1324C>G (p.His442Asp) rs2135939533
NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro) rs751604696
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln) rs80338864
NM_001360.3(DHCR7):c.1348C>T (p.Arg450Cys)
NM_001360.3(DHCR7):c.1352G>T (p.Cys451Phe)
NM_001360.3(DHCR7):c.1385A>G (p.Tyr462Cys)
NM_001360.3(DHCR7):c.1397T>C (p.Val466Ala)
NM_001360.3(DHCR7):c.1399C>T (p.Pro467Ser)
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001360.3(DHCR7):c.152C>T (p.Pro51Leu)
NM_001360.3(DHCR7):c.278C>A (p.Thr93Lys)
NM_001360.3(DHCR7):c.322-1G>A rs1565588719
NM_001360.3(DHCR7):c.322-1G>C rs1565588719
NM_001360.3(DHCR7):c.373T>C (p.Tyr125His)
NM_001360.3(DHCR7):c.374A>G (p.Tyr125Cys) rs2135945513
NM_001360.3(DHCR7):c.412+2T>C
NM_001360.3(DHCR7):c.533T>A (p.Ile178Asn)
NM_001360.3(DHCR7):c.546G>C (p.Trp182Cys)
NM_001360.3(DHCR7):c.546G>T (p.Trp182Cys)
NM_001360.3(DHCR7):c.548G>A (p.Cys183Tyr) rs2135944619
NM_001360.3(DHCR7):c.626+2del
NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln)
NM_001360.3(DHCR7):c.725G>C (p.Arg242Pro)
NM_001360.3(DHCR7):c.725G>T (p.Arg242Leu)
NM_001360.3(DHCR7):c.739G>T (p.Ala247Ser) rs767031102
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly) rs1406131499
NM_001360.3(DHCR7):c.817G>A (p.Val273Ile)
NM_001360.3(DHCR7):c.821A>C (p.Asn274Thr) rs774275482
NM_001360.3(DHCR7):c.838T>G (p.Tyr280Asp)
NM_001360.3(DHCR7):c.88G>A (p.Gly30Ser)
NM_001360.3(DHCR7):c.89G>A (p.Gly30Asp)
NM_001360.3(DHCR7):c.901C>A (p.His301Asn)
NM_001360.3(DHCR7):c.904T>G (p.Phe302Val)
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp) rs142808899
NM_001360.3(DHCR7):c.908G>A (p.Gly303Glu)
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360.3(DHCR7):c.926G>A (p.Gly309Asp)
NM_001360.3(DHCR7):c.952T>C (p.Tyr318His)
NM_001360.3(DHCR7):c.953A>G (p.Tyr318Cys) rs1457166572
NM_001360.3(DHCR7):c.977T>G (p.Val326Gly) rs1333822866
NM_001360.3(DHCR7):c.98+1G>T
NM_001360.3(DHCR7):c.98+2T>C
NM_001360.3(DHCR7):c.98+2_98+6del rs1301873688
NM_001367561.1(DOCK7):c.1519+1G>A
NM_001367561.1(DOCK7):c.2200-2A>G
NM_001367561.1(DOCK7):c.2431+1G>A
NM_001367561.1(DOCK7):c.2432-2A>C rs760580647
NM_001367561.1(DOCK7):c.2596+1G>C
NM_001367561.1(DOCK7):c.2767-1G>A rs1645656856
NM_001367561.1(DOCK7):c.2949+2T>C
NM_001367561.1(DOCK7):c.3187-31_3274del rs2149393215
NM_001367561.1(DOCK7):c.5493+1G>T
NM_001367561.1(DOCK7):c.5724+1G>A rs2149260122
NM_001367561.1(DOCK7):c.5725-2A>G
NM_001374353.1(GLI2):c.149-877_238del
NM_001374353.1(GLI2):c.1905+1G>A rs1558937172
NM_001429.4(EP300):c.1282+1G>A
NM_001429.4(EP300):c.1739G>A (p.Arg580Gln)
NM_001429.4(EP300):c.1878+1G>A rs2058974109
NM_001429.4(EP300):c.3589A>T (p.Arg1197Trp) rs1340981566
NM_001429.4(EP300):c.3729-1G>T rs2145756375
NM_001429.4(EP300):c.4287-1G>T
NM_001429.4(EP300):c.5897del (p.Gly1966fs)
NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp) rs1192977984
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala)
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) rs11549190
NM_001614.5(ACTG1):c.431C>T (p.Ala144Val)
NM_001614.5(ACTG1):c.442A>G (p.Thr148Ala)
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.5(ACTG1):c.547C>T (p.Arg183Trp) rs1362994447
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln) rs1555666715
NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn)
NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys) rs2153074319
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys) rs796052728
NM_002397.5(MEF2C):c.637+1G>C rs2152497250
NM_002397.5(MEF2C):c.637+1G>T
NM_002397.5(MEF2C):c.638-1G>A rs2152281284
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)
NM_002397.5(MEF2C):c.810+2T>C
NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr) rs2147714706
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002641.4(PIGA):c.188G>C (p.Arg63Thr)
NM_002641.4(PIGA):c.193C>T (p.His65Tyr) rs1602212285
NM_002641.4(PIGA):c.242G>A (p.Arg81His) rs1922162801
NM_003036.4(SKI):c.104C>A (p.Pro35Gln) rs397514589
NM_003036.4(SKI):c.104C>T (p.Pro35Leu)
NM_003036.4(SKI):c.350G>A (p.Gly117Asp) rs2100790073
NM_003036.4(SKI):c.68A>C (p.Gln23Pro) rs1557806222
NM_003244.4(TGIF1):c.268C>T (p.Arg90Cys) rs1555650923
NM_003482.4(KMT2D):c.10232-1G>A
NM_003482.4(KMT2D):c.10502T>G (p.Val3501Gly) rs1565781216
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr) rs1943100257
NM_003482.4(KMT2D):c.10690C>T (p.Leu3564Phe) rs2120452029
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp) rs1943085639
NM_003482.4(KMT2D):c.1112+1G>C
NM_003482.4(KMT2D):c.13651_15785-305del
NM_003482.4(KMT2D):c.14075+1G>A rs1057516039
NM_003482.4(KMT2D):c.14076-2A>C rs1592110749
NM_003482.4(KMT2D):c.15157GACCTG[1] (p.5053DL[1]) rs398123725
NM_003482.4(KMT2D):c.15185G>C (p.Cys5062Ser)
NM_003482.4(KMT2D):c.15230T>C (p.Leu5077Pro) rs398123726
NM_003482.4(KMT2D):c.15397T>C (p.Cys5133Arg) rs2120360235
NM_003482.4(KMT2D):c.15536G>C (p.Arg5179Pro) rs267607237
NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg) rs1555185701
NM_003482.4(KMT2D):c.15629A>G (p.Tyr5210Cys) rs1942587772
NM_003482.4(KMT2D):c.15921+1G>A rs1555185299
NM_003482.4(KMT2D):c.15922-1G>A
NM_003482.4(KMT2D):c.15922-2A>G rs2137710791
NM_003482.4(KMT2D):c.16052+2T>G
NM_003482.4(KMT2D):c.16295G>T (p.Arg5432Leu)
NM_003482.4(KMT2D):c.16338+1G>A rs1555184782
NM_003482.4(KMT2D):c.16338+2T>C rs1555184777
NM_003482.4(KMT2D):c.16339-1G>C rs2137705201
NM_003482.4(KMT2D):c.16339-2A>C
NM_003482.4(KMT2D):c.16529A>G (p.Tyr5510Cys) rs1383821738
NM_003482.4(KMT2D):c.2798-1G>A
NM_003482.4(KMT2D):c.3907-1G>A rs2120632521
NM_003482.4(KMT2D):c.4222T>G (p.Cys1408Gly) rs1555195432
NM_003482.4(KMT2D):c.4237-2A>G rs797045001
NM_003482.4(KMT2D):c.4267C>A (p.Arg1423Ser)
NM_003482.4(KMT2D):c.4290T>G (p.Cys1430Trp)
NM_003482.4(KMT2D):c.4359C>G (p.His1453Gln) rs767737749
NM_003482.4(KMT2D):c.49+1del rs1565826250
NM_003482.4(KMT2D):c.4963+1G>T
NM_003482.4(KMT2D):c.510+2T>C
NM_003482.4(KMT2D):c.5189-1G>C rs2120577091
NM_003482.4(KMT2D):c.5189-2A>G
NM_003482.4(KMT2D):c.5319+1G>A rs1057520722
NM_003482.4(KMT2D):c.5868-1G>A rs867333942
NM_003482.4(KMT2D):c.8046+2T>G
NM_003482.4(KMT2D):c.840-2A>G rs1555198201
NM_004380.3(CREBBP):c.1574-2A>G rs2141248421
NM_004380.3(CREBBP):c.2283+1G>T
NM_004380.3(CREBBP):c.2464-1G>A rs2052993075
NM_004380.3(CREBBP):c.3248_3250+4del
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr) rs2052153254
NM_004380.3(CREBBP):c.4281-2A>T
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.4395-2A>C rs2151330226
NM_004380.3(CREBBP):c.4615T>A (p.Tyr1539Asn)
NM_004380.3(CREBBP):c.4719_4728+614del
NM_004380.3(CREBBP):c.5059T>C (p.Ser1687Pro) rs61731407
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe) rs2151316542
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln) rs1131691326
NM_004380.3(CREBBP):c.5615T>C (p.Met1872Thr) rs879255381
NM_004456.5(EZH2):c.1990G>T (p.Asp664Tyr) rs1060503430
NM_004456.5(EZH2):c.2000T>C (p.Met667Thr) rs1584875099
NM_004456.5(EZH2):c.2048C>A (p.Thr683Asn) rs1802412684
NM_004456.5(EZH2):c.2132A>T (p.His711Leu) rs1584862929
NM_004456.5(EZH2):c.2187T>G (p.Phe729Leu) rs1584862620
NM_004456.5(EZH2):c.2196-10_2197dup rs1584844589
NM_004456.5(EZH2):c.2218_2220dup (p.Lys740dup) rs1563181659
NM_005343.4(HRAS):c.171_185dup (p.Asp57_Gln61dup) rs2133990973
NM_005343.4(HRAS):c.178G>A (p.Gly60Ser) rs1589792804
NM_005343.4(HRAS):c.37G>A (p.Gly13Ser) rs104894228
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005360.5(MAF):c.185C>T (p.Thr62Met) rs727502771
NM_005360.5(MAF):c.905C>T (p.Ala302Val) rs1481963503
NM_005360.5(MAF):c.916C>G (p.Arg306Gly) rs1913781557
NM_005413.4(SIX3):c.770G>C (p.Arg257Pro) rs121917879
NM_005445.4(SMC3):c.1127A>C (p.Tyr376Ser)
NM_005445.4(SMC3):c.1417T>C (p.Trp473Arg) rs1861180567
NM_005445.4(SMC3):c.1505G>A (p.Gly502Glu)
NM_005445.4(SMC3):c.1901G>A (p.Arg634His) rs2134740210
NM_005445.4(SMC3):c.1925T>C (p.Leu642Pro) rs1590563617
NM_005445.4(SMC3):c.1942A>G (p.Met648Val) rs886041239
NM_005445.4(SMC3):c.2347A>C (p.Thr783Pro)
NM_005445.4(SMC3):c.2590T>C (p.Ser864Pro)
NM_005629.4(SLC6A8):c.1016+2T>C rs1557045066
NM_005629.4(SLC6A8):c.1016+2_1016+5del rs2148363006
NM_005629.4(SLC6A8):c.1513GAC[1] (p.Asp506del) rs2091477188
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu) rs397515558
NM_005629.4(SLC6A8):c.263-3_271del
NM_005629.4(SLC6A8):c.342G>C (p.Gln114His) rs2091449037
NM_005629.4(SLC6A8):c.394+2T>G
NM_005629.4(SLC6A8):c.859_913-39del
NM_005629.4(SLC6A8):c.912+2T>G rs2091466607
NM_006265.3(RAD21):c.1858A>T (p.Ile620Phe) rs764118613
NM_006265.3(RAD21):c.814+2T>C
NM_006306.4(SMC1A):c.1405C>T (p.Arg469Cys)
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys) rs2075701790
NM_006306.4(SMC1A):c.1546-2A>C
NM_006306.4(SMC1A):c.1714C>T (p.Pro572Ser)
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.4(SMC1A):c.2314-2A>G rs1602409271
NM_006306.4(SMC1A):c.2314-2A>T rs1602409271
NM_006306.4(SMC1A):c.2314-7_2314-3del rs2146598341
NM_006306.4(SMC1A):c.2320G>T (p.Asp774Tyr) rs2075680329
NM_006306.4(SMC1A):c.3056_3082delinsTGCAG (p.Arg1019fs) rs1556886127
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.4(SMC1A):c.3344G>A (p.Cys1115Tyr) rs2146582443
NM_006306.4(SMC1A):c.3344G>T (p.Cys1115Phe) rs2146582443
NM_006306.4(SMC1A):c.3437+1G>A rs2146582412
NM_006306.4(SMC1A):c.3461T>A (p.Val1154Asp) rs1569351534
NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser) rs1556885810
NM_006306.4(SMC1A):c.3652_3663del (p.Phe1218_Thr1221del) rs1569351341
NM_006306.4(SMC1A):c.855-1G>A
NM_007129.5(ZIC2):c.1200_1205del (p.Lys400_Tyr402delinsAsn) rs2053256914
NM_007129.5(ZIC2):c.1229_1234del (p.Lys410_His411del) rs1566405714
NM_007129.5(ZIC2):c.1243del (p.His415fs) rs2152163697
NM_007129.5(ZIC2):c.1388_1389insAGCGGCGGCGGCAGCGGCGGCGGCAGCGGCGGC (p.Ala470_Val471insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_012330.4(KAT6B):c.3022-1G>C
NM_012414.4(RAB3GAP2):c.1715-1G>A
NM_013275.6(ANKRD11):c.226G>A (p.Glu76Lys) rs1555535454
NM_013275.6(ANKRD11):c.745-2A>G
NM_013275.6(ANKRD11):c.7714-1G>C rs2151676035
NM_013275.6(ANKRD11):c.893-2A>G rs2151766883
NM_014141.6(CNTNAP2):c.1084-2A>C
NM_014141.6(CNTNAP2):c.1348+1G>A
NM_014141.6(CNTNAP2):c.1349-1G>A
NM_014141.6(CNTNAP2):c.208+1G>A
NM_014141.6(CNTNAP2):c.3345_3381+346del
NM_014141.6(CNTNAP2):c.3382-2A>C rs1085307838
NM_014141.6(CNTNAP2):c.3922_3970dup (p.Glu1324delinsGlyArgArgHisHisGluGlnArgProGlnLeuHisArgAspHisTer) rs757043221
NM_014141.6(CNTNAP2):c.402+1G>C rs767408882
NM_014141.6(CNTNAP2):c.97+1G>A rs972116002
NM_014141.6(CNTNAP2):c.98-1G>A rs2129185949
NM_014795.4(ZEB2):c.3119ACC[3] (p.His1041_Leu1042insHis)
NM_014795.4(ZEB2):c.3146A>G (p.His1049Arg) rs1114167349
NM_014795.4(ZEB2):c.3208_3213del (p.Tyr1070_Ser1071del)
NM_014795.4(ZEB2):c.73+2T>C rs398124282
NM_014795.4(ZEB2):c.916+1G>T rs2149877941
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp) rs1703292916
NM_014846.4(WASHC5):c.1151-2A>G rs1563627853
NM_014846.4(WASHC5):c.186+1G>C
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser) rs1060502725
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp) rs397515564
NM_014846.4(WASHC5):c.740G>A (p.Arg247His)
NM_015443.4(KANSL1):c.1533+1G>A
NM_015443.4(KANSL1):c.1768_1769delinsAG (p.Ala590Arg) rs2078387202
NM_015443.4(KANSL1):c.2542-1G>A rs111514883
NM_017890.5(VPS13B):c.4158-2A>G rs2133626470
NM_018486.3(HDAC8):c.1005+2T>C rs2148039062
NM_018486.3(HDAC8):c.1019A>C (p.Tyr340Ser) rs1555949010
NM_018486.3(HDAC8):c.738-2A>G
NM_022552.5(DNMT3A):c.1523T>C (p.Leu508Pro)
NM_022552.5(DNMT3A):c.1554+1G>A rs766110518
NM_022552.5(DNMT3A):c.1667+1G>A
NM_022552.5(DNMT3A):c.2409-1G>A rs866917013
NM_022552.5(DNMT3A):c.2495C>T (p.Thr832Ile) rs1573297136
NM_022552.5(DNMT3A):c.2540_2541del (p.His847fs) rs1558653090
NM_022552.5(DNMT3A):c.855+1G>A rs772041639
NM_024665.7(TBL1XR1):c.1048-1G>A rs1576993734
NM_024665.7(TBL1XR1):c.1385T>C (p.Phe462Ser)
NM_024665.7(TBL1XR1):c.1387G>A (p.Asp463Asn) rs1560098548
NM_024665.7(TBL1XR1):c.514G>C (p.Val172Leu) rs1716920045
NM_024665.7(TBL1XR1):c.734A>G (p.Tyr245Cys) rs878854401
NM_024665.7(TBL1XR1):c.864+1G>A
NM_024757.5(EHMT1):c.1170+2T>C
NM_024757.5(EHMT1):c.1370-1G>C
NM_024757.5(EHMT1):c.13_21+153del rs1564509503
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.3259-1G>A rs1554897763
NM_024757.5(EHMT1):c.3313T>C (p.Cys1105Arg)
NM_024757.5(EHMT1):c.347A>G (p.Gln116Arg)
NM_024757.5(EHMT1):c.50_85+60del rs2135388757
NM_024757.5(EHMT1):c.643-1G>A
NM_031483.7(ITCH):c.1099_1140+38dup
NM_031483.7(ITCH):c.1569+1G>T
NM_058179.4(PSAT1):c.122-1G>C rs772958302
NM_058179.4(PSAT1):c.43_60+9del
NM_058179.4(PSAT1):c.570+2T>C
NM_058179.4(PSAT1):c.570+2_570+15del rs2118643983
NM_058179.4(PSAT1):c.571-1G>A rs1828216198
NM_133433.4(NIPBL):c.3575-2A>G
NM_133433.4(NIPBL):c.3664+1G>A
NM_133433.4(NIPBL):c.4560+1G>C rs2149681631
NM_133433.4(NIPBL):c.4746ACT[3] (p.Leu1585dup) rs1748964402
NM_133433.4(NIPBL):c.5011-1G>C rs1561169166
NM_133433.4(NIPBL):c.5225+2T>G
NM_133433.4(NIPBL):c.5374G>C (p.Ala1792Pro) rs1554025675
NM_133433.4(NIPBL):c.5464G>A (p.Asp1822Asn)
NM_133433.4(NIPBL):c.5466T>G (p.Asp1822Glu)
NM_133433.4(NIPBL):c.5575-1G>A rs1750049152
NM_133433.4(NIPBL):c.5862+1G>A rs587783985
NM_133433.4(NIPBL):c.6038G>A (p.Ser2013Asn) rs1554030233
NM_133433.4(NIPBL):c.6068A>G (p.His2023Arg) rs587783991
NM_133433.4(NIPBL):c.6249+1G>A rs2149730953
NM_133433.4(NIPBL):c.6455G>C (p.Arg2152Pro) rs781297222
NM_133433.4(NIPBL):c.6860T>C (p.Leu2287Pro)
NM_133433.4(NIPBL):c.7079G>A (p.Gly2360Asp) rs2149742261
NM_133433.4(NIPBL):c.7169C>T (p.Ala2390Val)
NM_133433.4(NIPBL):c.7263+1G>A
NM_133433.4(NIPBL):c.7410+4A>G rs1561222738
NM_133433.4(NIPBL):c.7623G>A (p.Gln2541=) rs1754396332
NM_133433.4(NIPBL):c.7832A>G (p.Lys2611Arg) rs1554035311
NM_138425.4(C12orf57):c.184C>T (p.Gln62Ter) rs587777698
NM_138425.4(C12orf57):c.52+1G>C
NM_152564.5(VPS13B):c.10867+1G>T rs780902262
NM_152564.5(VPS13B):c.10868-2A>G
NM_152564.5(VPS13B):c.11181_11215+10del
NM_152564.5(VPS13B):c.11392+1G>T rs1554587021
NM_152564.5(VPS13B):c.11393-1G>C
NM_152564.5(VPS13B):c.11495+178_11507delinsCAG
NM_152564.5(VPS13B):c.11495+1G>A
NM_152564.5(VPS13B):c.1303-1G>C rs1554634091
NM_152564.5(VPS13B):c.147+1G>C
NM_152564.5(VPS13B):c.148-2A>G rs768406797
NM_152564.5(VPS13B):c.1563+1G>T rs1057516923
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_152564.5(VPS13B):c.1651+1G>T
NM_152564.5(VPS13B):c.1652-2A>T rs2132580903
NM_152564.5(VPS13B):c.1843+1G>A
NM_152564.5(VPS13B):c.2013+2341_2166del
NM_152564.5(VPS13B):c.2209-2A>G
NM_152564.5(VPS13B):c.2333+1G>T rs1812243683
NM_152564.5(VPS13B):c.2516-2A>G rs1554706114
NM_152564.5(VPS13B):c.2824+2T>G rs141703746
NM_152564.5(VPS13B):c.291+1G>A rs1057516857
NM_152564.5(VPS13B):c.291+2T>A
NM_152564.5(VPS13B):c.292-2A>G rs386834079
NM_152564.5(VPS13B):c.2934+1G>T rs775729058
NM_152564.5(VPS13B):c.2934+2T>A
NM_152564.5(VPS13B):c.2935-1G>A rs2133312466
NM_152564.5(VPS13B):c.3082+1G>A
NM_152564.5(VPS13B):c.3083-1G>A rs1563726973
NM_152564.5(VPS13B):c.3445+2T>A
NM_152564.5(VPS13B):c.3446-1G>A
NM_152564.5(VPS13B):c.3446-382_3463del rs1588410519
NM_152564.5(VPS13B):c.3667-1G>A rs750609612
NM_152564.5(VPS13B):c.3870+1G>A rs764225649
NM_152564.5(VPS13B):c.3870+1G>T rs764225649
NM_152564.5(VPS13B):c.412+1G>C rs1057517295
NM_152564.5(VPS13B):c.412+2T>C
NM_152564.5(VPS13B):c.4157+2T>G
NM_152564.5(VPS13B):c.4225-1G>A rs2133637043
NM_152564.5(VPS13B):c.4633+1G>A
NM_152564.5(VPS13B):c.4634-2A>G rs2133668102
NM_152564.5(VPS13B):c.4746-1G>T rs768342041
NM_152564.5(VPS13B):c.4950-1G>C rs1554852945
NM_152564.5(VPS13B):c.5076+1G>C
NM_152564.5(VPS13B):c.5076+1G>T
NM_152564.5(VPS13B):c.5077-62_5084delinsAAGTAAGG
NM_152564.5(VPS13B):c.580+1G>A rs1846848656
NM_152564.5(VPS13B):c.580+2T>C
NM_152564.5(VPS13B):c.581-1G>A
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.6046+1G>T rs750003804
NM_152564.5(VPS13B):c.7050+1G>T rs1057516840
NM_152564.5(VPS13B):c.7247+2043_7403del
NM_152564.5(VPS13B):c.7248-1G>C rs763079458
NM_152564.5(VPS13B):c.762+1G>A
NM_152564.5(VPS13B):c.762+2T>C rs1588048848
NM_152564.5(VPS13B):c.763-1G>T
NM_152564.5(VPS13B):c.7779+1G>C
NM_152564.5(VPS13B):c.7779+1G>T
NM_152564.5(VPS13B):c.8098-1G>C rs1554565484
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu) rs180177370
NM_152564.5(VPS13B):c.8361+1G>A rs542757501
NM_152564.5(VPS13B):c.8362-1G>C
NM_152564.5(VPS13B):c.8445+1G>C
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.8793-2A>G
NM_152564.5(VPS13B):c.8995-1G>A
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.9183+1G>A rs2130822351
NM_152564.5(VPS13B):c.9183+2T>G
NM_152564.5(VPS13B):c.9184-1G>A
NM_152564.5(VPS13B):c.9184-2A>G
NM_152564.5(VPS13B):c.9184-2_9184del rs1057516807
NM_152564.5(VPS13B):c.9330+1G>C rs756013171
NM_152564.5(VPS13B):c.9330+2T>C rs1554570388
NM_152564.5(VPS13B):c.937+1G>A
NM_152564.5(VPS13B):c.938-1G>C rs2132515671
NM_152564.5(VPS13B):c.9742+1G>A
NM_152564.5(VPS13B):c.9742+2T>C rs1434569440
NM_152564.5(VPS13B):c.9743-2A>C rs1815345770
NM_152564.5(VPS13B):c.9743-5_9744del
NM_152564.5(VPS13B):c.9934_9942+5del rs1554575693
NM_152564.5(VPS13B):c.9942+1G>A rs1057517063
NM_152564.5(VPS13B):c.9942+1G>T rs1057517063
NM_176787.5(PIGN):c.1109A>C (p.Gln370Pro)
NM_176787.5(PIGN):c.1116+1G>A
NM_176787.5(PIGN):c.1173-1G>T rs2035018293
NM_176787.5(PIGN):c.1434_1434+1delinsAA rs886041514
NM_176787.5(PIGN):c.1574+1G>A
NM_176787.5(PIGN):c.1574+1G>C rs371315187
NM_176787.5(PIGN):c.1675-1G>T rs772411133
NM_176787.5(PIGN):c.1860-1G>A rs1599525360
NM_176787.5(PIGN):c.2077+2T>A rs1599520660
NM_176787.5(PIGN):c.2181-2A>G rs1453224514
NM_176787.5(PIGN):c.222-1G>A
NM_176787.5(PIGN):c.2271_2283+1del rs2033903740
NM_176787.5(PIGN):c.2370+1G>A
NM_176787.5(PIGN):c.2371-1G>T rs778689280
NM_176787.5(PIGN):c.2371-2A>G
NM_176787.5(PIGN):c.2426+1G>T rs1458045074
NM_176787.5(PIGN):c.2426+2T>G
NM_176787.5(PIGN):c.2427-1G>A
NM_176787.5(PIGN):c.2427-1G>T
NM_176787.5(PIGN):c.2502+1G>A
NM_176787.5(PIGN):c.2502+1G>T
NM_176787.5(PIGN):c.2503-2A>G
NM_176787.5(PIGN):c.2577-1G>A rs2033087760
NM_176787.5(PIGN):c.2620-1G>A rs759453664
NM_176787.5(PIGN):c.2620-2A>G rs1568143319
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_176787.5(PIGN):c.328_549+1908del
NM_176787.5(PIGN):c.343+1G>A
NM_176787.5(PIGN):c.343+2T>C
NM_176787.5(PIGN):c.344-1G>A rs776568529
NM_176787.5(PIGN):c.344-2A>C rs2147517939
NM_176787.5(PIGN):c.654T>G (p.His218Gln) rs1035743375
NM_176787.5(PIGN):c.674+1G>A rs1555694770
NM_176787.5(PIGN):c.674+2T>A
NM_176787.5(PIGN):c.675-1G>C
NM_176787.5(PIGN):c.675-2A>T
NM_176787.5(PIGN):c.806-1G>C
NM_176787.5(PIGN):c.806-4_808del
NM_176787.5(PIGN):c.922+2T>C
NM_176787.5(PIGN):c.923-1G>A rs1000602230
NM_176787.5(PIGN):c.923-1G>T
NM_176787.5(PIGN):c.963+1G>T rs1568224018
NM_176787.5(PIGN):c.963+2T>C
NM_194318.4(B3GLCT):c.161-1G>T
NM_194318.4(B3GLCT):c.71-1G>T
NM_194318.4(B3GLCT):c.851-1G>T
NM_198525.3(KIF7):c.1789-2A>G
NM_198525.3(KIF7):c.2192-1G>A rs1424230161
NM_198525.3(KIF7):c.2592+2T>G
NM_198525.3(KIF7):c.3318+1G>T
NM_198525.3(KIF7):c.3518-1G>C rs1567057019
NM_198525.3(KIF7):c.923+2T>G

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