ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 289
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HGVS dbSNP gnomAD frequency
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_005199.5(CHRNG):c.459dup (p.Val154fs) rs774279192 0.00048
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952 0.00041
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala) rs80338711 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp) rs777425801 0.00009
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00006
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu) rs755177846 0.00005
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 0.00005
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00004
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_000079.4(CHRNA1):c.1A>G (p.Met1Val) rs146464862 0.00003
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter) rs750345068 0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) rs121909767 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696 0.00002
NM_001360.3(DHCR7):c.321G>C (p.Gln107His) rs104886040 0.00002
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter) rs373221034 0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354 0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078 0.00002
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) rs786204533 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) rs386834113 0.00002
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln) rs374704368 0.00002
NM_176787.5(PIGN):c.963G>A (p.Gln321=) rs587777187 0.00002
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr) rs779169597 0.00001
NM_001163435.3(TBCK):c.1220+1G>A rs760715215 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter) rs1555145605 0.00001
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His) rs1046560765 0.00001
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852 0.00001
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met) rs760428437 0.00001
NM_001360.3(DHCR7):c.151C>T (p.Pro51Ser) rs104886035 0.00001
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter) rs104886039 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001360.3(DHCR7):c.651C>A (p.Tyr217Ter) rs749076525 0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met) rs398123607 0.00001
NM_001371986.1(UNC80):c.4063C>T (p.Arg1355Ter) rs750226213 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg) rs765746795 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_005993.5(TBCD):c.1224-2A>G rs1161413517 0.00001
NM_005993.5(TBCD):c.1423G>A (p.Ala475Thr) rs775014444 0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter) rs386834107 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter) rs1171657935 0.00001
NM_174916.3(UBR1):c.3055C>T (p.Arg1019Ter) rs267604210 0.00001
NM_176787.5(PIGN):c.2126G>A (p.Arg709Gln) rs397514475 0.00001
NC_000002.11:g.(3660973_3685122)_(3692235_?)del
NC_000003.11:g.(41241162_41265511)_(41268844_41274831)del
NC_000004.11:g.(107169464_107170077)_(107183370_107216250)del
NC_000004.11:g.107169414_(107183370_107216250)del
NC_000006.11:g.(86251762_86252899)_(86259598_86267693)dup
NC_000007.13:g.(146536997_146740998)_(146741147_146805238)del
NC_000007.13:g.(146536997_146740998)_(146829602_146997232)del
NC_000007.13:g.(147600814_147674953)_(147675082_147815209)del
NC_000007.13:g.(151871328_151873275)_(151933019_151935791)del
NC_000008.10:g.(100115349_100123325)_(100182392_100205103)del
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
NC_000008.10:g.(100568882_100587885)_(100789185_100790909)del
NC_000008.10:g.(100568882_100587885)_(100791260_100796542)del
NC_000010.10:g.(131676114_131755521)_(131762539_?)del
NC_000015.9:g.(90193173_90195833)_(90198683_?)del
NC_000023.10:g.(152958631_152958717)_(152959042_152959359)del
NM_000079.4(CHRNA1):c.44-1G>A
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu) rs1574823172
NM_000369.5(TSHR):c.1348del (p.Arg450fs)
NM_000381.4(MID1):c.388G>A (p.Ala130Thr) rs1934582371
NM_000381.4(MID1):c.829C>T (p.Arg277Ter) rs1555895704
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_001101.5(ACTB):c.629G>A (p.Arg210His) rs1064793444
NM_001145358.2(SIN3A):c.1657C>T (p.Arg553Ter) rs1555444885
NM_001163435.3(TBCK):c.831_832insTA (p.Pro278fs) rs869320769
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter) rs1555043796
NM_001270.4(CHD1):c.3133G>A (p.Glu1045Lys)
NM_001272071.2(AP1S2):c.319del (p.Glu107fs)
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.3047dup (p.Ala1017fs)
NM_001286577.2(C2CD3):c.1996C>T (p.Arg666Ter)
NM_001286577.2(C2CD3):c.2969_2972delinsGGTTTACA (p.Ser990fs)
NM_001286577.2(C2CD3):c.2_9del (p.Met1fs)
NM_001286577.2(C2CD3):c.3345-1G>A
NM_001286577.2(C2CD3):c.994dup (p.Val332fs) rs750700691
NM_001291415.2(KDM6A):c.3954_3955dup (p.Ile1319fs)
NM_001330078.2(NRXN1):c.3218del (p.Asn1073fs)
NM_001330078.2(NRXN1):c.763dup (p.Cys255fs)
NM_001330078.2(NRXN1):c.822del (p.Ser276fs)
NM_001330288.2(SMARCC2):c.1497-2A>G
NM_001330288.2(SMARCC2):c.3381_3388del (p.Ile1128fs)
NM_001347721.2(DYRK1A):c.848del (p.Asn283fs)
NM_001347721.2(DYRK1A):c.931_932del (p.Gln311fs) rs2148619406
NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln) rs121909768
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser) rs61757582
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg) rs80338862
NM_001360.3(DHCR7):c.1327C>G (p.Arg443Gly)
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001360.3(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.3(DHCR7):c.355del (p.His119fs) rs747827699
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.3(DHCR7):c.473G>A (p.Trp158Ter)
NM_001360.3(DHCR7):c.501G>A (p.Trp167Ter) rs1427321619
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.3(DHCR7):c.907G>C (p.Gly303Arg)
NM_001360.3(DHCR7):c.963+1G>A
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-1G>T rs138659167
NM_001360.3(DHCR7):c.98+2_98+6del rs1301873688
NM_001371986.1(UNC80):c.151C>T (p.Arg51Ter) rs869025320
NM_001371986.1(UNC80):c.5570_5571del (p.Val1857fs) rs2090097617
NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs) rs1572163072
NM_001394372.1(BICRA):c.3300C>A (p.Tyr1100Ter)
NM_001429.4(EP300):c.598C>T (p.Arg200Ter) rs769721953
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys) rs797044916
NM_001879.6(MASP1):c.1498del (p.Asp500fs)
NM_001904.4(CTNNB1):c.1314dup (p.Cys439fs)
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter) rs886039332
NM_001904.4(CTNNB1):c.1863dup (p.Ala622fs)
NM_001904.4(CTNNB1):c.496-2A>G
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly) rs281875184
NM_003073.5(SMARCB1):c.796-1G>A rs2146026614
NM_003073.5(SMARCB1):c.986+2T>C rs2030331202
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003922.4(HERC1):c.11160G>A (p.Trp3720Ter)
NM_003922.4(HERC1):c.8504del (p.Gly2835fs)
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.730A>C (p.Thr244Pro) rs397507465
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004380.3(CREBBP):c.3099_3102del (p.Glu1034fs)
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter) rs587783509
NM_005199.5(CHRNG):c.351-2A>G
NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys) rs1574645121
NM_005199.5(CHRNG):c.794T>G (p.Leu265Arg)
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35_36delinsTT (p.Gly12Val) rs727503094
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005629.4(SLC6A8):c.101_102insGC (p.Asp35fs) rs2148358474
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1254+1G>A rs1557045333
NM_005629.4(SLC6A8):c.1539C>G (p.Tyr513Ter)
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu) rs397515558
NM_005629.4(SLC6A8):c.82del (p.Asp28fs)
NM_005629.4(SLC6A8):c.97_98del (p.Lys33fs) rs2148358457
NM_005862.3(STAG1):c.2557dup (p.Glu853fs) rs1560062082
NM_005993.4(TBCD):c.1150_1171del rs751754677
NM_005993.5(TBCD):c.435+1del
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu) rs1030084592
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006306.4(SMC1A):c.277_288del (p.Thr93_Arg96del)
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_007059.3(KPTN):c.397_398delAG
NM_007129.5(ZIC2):c.1004del (p.Cys335fs)
NM_007363.5(NONO):c.276_288del (p.Lys92fs)
NM_007363.5(NONO):c.322_348+280del rs2148033540
NM_007363.5(NONO):c.332_348+280del
NM_013275.6(ANKRD11):c.7535G>C (p.Arg2512Pro)
NM_014141.6(CNTNAP2):c.1723del (p.Ser575fs) rs2116638179
NM_014141.6(CNTNAP2):c.682G>A (p.Gly228Arg) rs371512835
NM_014305.4(TGDS):c.313+1G>A
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_014846.4(WASHC5):c.210del (p.Lys70fs)
NM_015335.5(MED13L):c.4456C>T (p.Gln1486Ter) rs1555243580
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs) rs1877279397
NM_015335.5(MED13L):c.6501-2del
NM_015338.6(ASXL1):c.1751dup (p.Val585fs) rs748946310
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015338.6(ASXL1):c.2197C>T (p.Gln733Ter) rs387907078
NM_015338.6(ASXL1):c.2324del (p.Arg774_Leu775insTer) rs765327792
NM_015338.6(ASXL1):c.2644C>T (p.Gln882Ter)
NM_015338.6(ASXL1):c.2982del (p.His995fs)
NM_015338.6(ASXL1):c.3637del (p.Leu1213fs) rs1569337176
NM_015338.6(ASXL1):c.4060G>T (p.Glu1354Ter) rs1569339085
NM_015443.4(KANSL1):c.611del (p.Gly204fs)
NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter) rs1585645384
NM_016030.6(TRAPPC12):c.979C>T (p.Gln327Ter)
NM_016111.4(TELO2):c.1612_1621dup (p.Leu541delinsProTer)
NM_016111.4(TELO2):c.2226+1G>C
NM_016628.5(WAC):c.1349dup (p.Tyr450Ter)
NM_016628.5(WAC):c.139C>T (p.Arg47Ter) rs368543869
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_018486.3(HDAC8):c.1010dup (p.Thr338fs)
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380
NM_018486.3(HDAC8):c.720T>G (p.Tyr240Ter) rs2048769063
NM_019023.5(PRMT7):c.1168C>T (p.Arg390Ter)
NM_019023.5(PRMT7):c.1499dup (p.Asp501fs) rs1567739042
NM_019023.5(PRMT7):c.477T>A (p.Tyr159Ter)
NM_019023.5(PRMT7):c.967C>T (p.Gln323Ter)
NM_020771.4(HACE1):c.859C>T (p.Gln287Ter)
NM_024757.5(EHMT1):c.824-2del rs1234654104
NM_030632.3(ASXL3):c.5467C>T (p.Arg1823Ter) rs2145432318
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_030665.4(RAI1):c.3534_3547del (p.Asp1179fs)
NM_030665.4(RAI1):c.5223del (p.Gly1742fs)
NM_030665.4(RAI1):c.5626dup (p.His1876fs)
NM_030973.4(MED25):c.2T>G (p.Met1Arg)
NM_031263.4(HNRNPK):c.66_95del (p.Pro23_Ala32del)
NM_031307.4(PUS3):c.438_442del (p.Asn146fs)
NM_078480.3(PUF60):c.464del (p.Ile155fs) rs1816624373
NM_133433.4(NIPBL):c.3547dup (p.Ala1183fs)
NM_133433.4(NIPBL):c.6706A>G (p.Asn2236Asp)
NM_133459.4(CCBE1):c.322C>T (p.Arg108Ter)
NM_152515.5(CKAP2L):c.1046_1053dup (p.Lys352fs)
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) rs386834069
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.5153_5154insC (p.Gln1719fs) rs1563806122
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.673C>T (p.Gln225Ter)
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9331-1_9332delinsTTT
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_170606.3(KMT2C):c.13334G>A (p.Gly4445Asp) rs2091357682
NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter) rs58528565
NM_176787.5(PIGN):c.1258del (p.Leu420fs) rs1555685797
NM_176787.5(PIGN):c.654T>G (p.His218Gln) rs1035743375
NM_194318.4(B3GLCT):c.1184+1G>A rs2137936107
NM_198525.3(KIF7):c.447C>A (p.Tyr149Ter)

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