ClinVar Miner

List of variants reported as likely pathogenic for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 357
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876 0.00021
NM_017433.5(MYO3A):c.315del (p.Gly106fs) rs777580042 0.00009
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00007
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_001943.5(DSG2):c.1652-1G>A rs1382430464 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val) rs397508553 0.00005
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000517.6(HBA2):c.69C>T (p.Gly23=) rs63751457 0.00004
NM_018082.6(POLR3B):c.1988C>T (p.Thr663Ile) rs755312623 0.00004
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211 0.00003
NM_000518.5(HBB):c.316-12T>C rs781604042 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447 0.00003
NM_001377.3(DYNC2H1):c.5972T>A (p.Met1991Lys) rs1202784860 0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371 0.00003
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761 0.00002
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu) rs750831299 0.00002
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308 0.00002
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000018.4(ACADVL):c.1183-15A>G rs765390290 0.00001
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp) rs766742117 0.00001
NM_000133.4(F9):c.459G>A (p.Val153=) rs144314232 0.00001
NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys) rs772574901 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000478.6(ALPL):c.299C>T (p.Thr100Met) rs1201942473 0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg) rs397508310 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met) rs1057518775 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627 0.00001
NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala) rs761308217 0.00001
NM_000552.5(VWF):c.4690C>T (p.Arg1564Trp) rs370854023 0.00001
NM_001261.4(CDK9):c.673C>T (p.Arg225Cys) rs767418586 0.00001
NM_001364905.1(LRBA):c.1043C>G (p.Ser348Ter) rs1192554889 0.00001
NM_002335.4(LRP5):c.199G>A (p.Ala67Thr) rs544861971 0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567 0.00001
NM_007254.4(PNKP):c.610C>T (p.Arg204Ter) rs796052850 0.00001
NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter) rs375941259 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
GRCh37/hg19 10q24.31-24.32(chr10:102965124-103403057)x3
GRCh37/hg19 10q24.31-24.32(chr10:102981549-103472860)x3
GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3
GRCh37/hg19 10q25.2(chr10:112516278-112583094)x1
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)
GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3
GRCh37/hg19 11q13.4(chr11:70403217-70698405)x1
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)
GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1
GRCh37/hg19 12q12(chr12:46207100-46242644)
GRCh37/hg19 12q15(chr12:70430549-70988542)x1
GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)
GRCh37/hg19 12q24.21(chr12:116374312-116535323)
GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1
GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)
GRCh37/hg19 13q13.1(chr13:32668491-32709676)
GRCh37/hg19 13q13.3(chr13:35531798-39607778)
GRCh37/hg19 13q32.3(chr13:101167705-101265053)
GRCh37/hg19 14q31.1-31.3(chr14:79782316-86358101)x3
GRCh37/hg19 16p11.2(chr16:30943854-31171177)
GRCh37/hg19 16p13.13(chr16:11632852-11714575)
GRCh37/hg19 17p13.3(chr17:1036474-1277162)x3
GRCh37/hg19 17p13.3(chr17:2264478-2570762)x3
GRCh37/hg19 18q12.2-21.1(chr18:36823620-44030870)x1
GRCh37/hg19 18q21.2(chr18:53277008-53428347)
GRCh37/hg19 18q21.2(chr18:53289889-53383013)
GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)
GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)
GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)
GRCh37/hg19 1q23.3(chr1:161207984-161404272)
GRCh37/hg19 1q23.3(chr1:161224742-161415981)x3
GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1
GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)
GRCh37/hg19 1q42.13(chr1:229555499-229577325)
GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)
GRCh37/hg19 20p13(chr20:404407-483858)x1
GRCh37/hg19 20p13(chr20:61568-806878)
GRCh37/hg19 22q12.2(chr22:32097774-32162022)x1
GRCh37/hg19 22q13.1(chr22:38116341-38369048)
GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1
GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1
GRCh37/hg19 2p22.2(chr2:36732352-36824417)x1
GRCh37/hg19 2p22.2(chr2:36768262-36961723)x1
GRCh37/hg19 2q14.1-14.3(chr2:116646793-126388760)x1
GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3
GRCh37/hg19 2q22.1-22.3(chr2:138578298-144874187)
GRCh37/hg19 2q23.3(chr2:150606201-153038451)
GRCh37/hg19 2q37.1(chr2:232215111-235593473)
GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)
GRCh37/hg19 4p16.3(chr4:769757-2009467)x3
GRCh37/hg19 4q21.23(chr4:85821886-86397283)x1
GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3
GRCh37/hg19 4q25-26(chr4:112849108-115434557)
GRCh37/hg19 5p15.2(chr5:11691081-11883119)x1
GRCh37/hg19 5p15.2(chr5:14300651-14379344)x1
GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1
GRCh37/hg19 5q15(chr5:92845157-93475376)x1
GRCh37/hg19 6p22.3(chr6:16348584-16559316)
GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)
GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3
GRCh37/hg19 6q23.3(chr6:135710693-135735779)
GRCh37/hg19 6q24.1-24.2(chr6:140486733-143341271)
GRCh37/hg19 6q27(chr6:170158867-170919482)x1
GRCh37/hg19 6q27(chr6:170230181-170919482)
GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1
GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)
GRCh37/hg19 7p22.1(chr7:5376510-5934779)x3
GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1
GRCh37/hg19 8p11.23-11.22(chr8:37566388-38802788)
GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1
GRCh37/hg19 9p21.2(chr9:27209491-27267535)x1
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)
GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)
GRCh37/hg19 Xp11.22(chrX:53797930-54608609)
GRCh37/hg19 Xp11.22-11.21(chrX:52881435-55684871)
GRCh37/hg19 Xp21.1(chrX:31761311-31858935)
GRCh37/hg19 Xp21.1(chrX:31776812-31899686)
GRCh37/hg19 Xp21.1(chrX:31881035-31993637)
GRCh37/hg19 Xp22.12(chrX:19819871-20222167)
GRCh37/hg19 Xp22.12(chrX:19911680-20289993)
GRCh37/hg19 Xp22.32(chrX:5746197-5814098)
GRCh37/hg19 Xq12-13.1(chrX:67570138-68576809)
GRCh37/hg19 Xq21.1(chrX:79898147-80011045)
GRCh37/hg19 Xq22.2-22.3(chrX:103046942-104214535)
GRCh37/hg19 Xq27.1-27.3(chrX:139493805-145133362)
GRCh37/hg19 Xq27.3-28(chrX:144487227-148811395)
GRCh37/hg19 Xq28(chrX:147573781-147628228)
NC_000001.11:g.10115497_16283149dup
NC_000010.11:g.71645832del rs1589292855
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu) rs201676770
NM_000020.3(ACVRL1):c.1270C>T (p.Pro424Ser) rs1085307419
NM_000020.3(ACVRL1):c.590C>A (p.Thr197Lys) rs1555152796
NM_000038.6(APC):c.6281_6282del (p.Pro2094fs) rs1554087314
NM_000038.6(APC):c.935dup (p.Glu313fs) rs587781451
NM_000052.7(ATP7A):c.3902A>G (p.Asp1301Gly) rs1557238588
NM_000059.4(BRCA2):c.5511dup (p.Glu1838Ter) rs2137518141
NM_000059.4(BRCA2):c.7292dup (p.Asn2431fs) rs2137557686
NM_000059.4(BRCA2):c.7701T>G (p.Tyr2567Ter) rs1555286423
NM_000059.4(BRCA2):c.8463del (p.Ile2822fs) rs397507988
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000061.3(BTK):c.1103-2A>G rs1603005659
NM_000061.3(BTK):c.484_500del (p.Ala162fs) rs1603010333
NM_000088.4(COL1A1):c.1157G>A (p.Gly386Glu) rs1555574123
NM_000088.4(COL1A1):c.1363G>A (p.Gly455Ser) rs72648339
NM_000088.4(COL1A1):c.1715G>C (p.Gly572Ala) rs1598295066
NM_000088.4(COL1A1):c.2769TCCCCCTGG[1] (p.925PGP[1]) rs1555572458
NM_000088.4(COL1A1):c.4316T>C (p.Ile1439Thr) rs1555571536
NM_000089.4(COL1A2):c.1396G>A (p.Gly466Ser) rs1584321194
NM_000093.5(COL5A1):c.1496G>C (p.Gly499Ala) rs1554792005
NM_000095.3(COMP):c.1000_1014del (p.Pro334_Asn338del) rs1601055900
NM_000095.3(COMP):c.1318G>C (p.Gly440Arg) rs1601053997
NM_000132.4(F8):c.1778T>A (p.Ile593Asn) rs1557280964
NM_000133.4(F9):c.1144T>A (p.Cys382Ser) rs137852260
NM_000133.4(F9):c.1174A>G (p.Asn392Asp) rs1603267412
NM_000133.4(F9):c.1256T>G (p.Val419Gly) rs137852280
NM_000133.4(F9):c.1290C>A (p.Ser430Arg) rs762229532
NM_000133.4(F9):c.190T>C (p.Cys64Arg) rs137852224
NM_000133.4(F9):c.520G>A (p.Val174Met) rs1603265504
NM_000133.4(F9):c.803G>T (p.Cys268Phe) rs1603267195
NM_000133.4(F9):c.88+5_88+8del rs1603263399
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.3342TGA[1] (p.Asp1115del) rs1597563323
NM_000138.5(FBN1):c.503G>A (p.Cys168Tyr) rs1555404803
NM_000138.5(FBN1):c.5824T>C (p.Cys1942Arg) rs1555395762
NM_000138.5(FBN1):c.6071G>A (p.Cys2024Tyr) rs1597529826
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.556C>A (p.His186Asn) rs111033725
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del) rs1131691505
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.3626_3627del (p.Leu1209fs) rs863225409
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000208.4(INSR):c.2774T>C (p.Ile925Thr) rs1599881881
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.642C>A (p.Cys214Ter) rs775479779
NM_000238.4(KCNH2):c.1418C>T (p.Thr473Ile) rs199472905
NM_000243.3(MEFV):c.2085G>C (p.Lys695Asn) rs104895208
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys) rs1557414802
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle) rs398123271
NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala) rs143023066
NM_000255.4(MMUT):c.567T>G (p.Asn189Lys) rs1561959114
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) rs397516040
NM_000257.4(MYH7):c.1396G>C (p.Glu466Gln) rs4981473
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro) rs1559614730
NM_000314.8(PTEN):c.635-1G>T rs876661024
NM_000314.8(PTEN):c.721T>C (p.Phe241Leu) rs1554825207
NM_000321.3(RB1):c.1390-2A>G rs1555286568
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_000350.3(ABCA4):c.2210T>A (p.Leu737Ter) rs1570387558
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn) rs61749450
NM_000355.4(TCN2):c.766_767dup (p.Met258fs) rs1555895069
NM_000371.4(TTR):c.221A>G (p.Glu74Gly) rs1598845097
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000384.3(APOB):c.13020T>G (p.Tyr4340Ter) rs141339310
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln) rs864622273
NM_000404.4(GLB1):c.998A>G (p.Tyr333Cys) rs370107958
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.316T>G (p.Cys106Gly) rs1555729589
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.601T>G (p.Cys201Gly) rs1599394654
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) rs1219724284
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del) rs753338851
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.4(CFTR):c.1210-2_1210-1del rs1562894926
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer) rs397508190
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.2988+1G>T rs75096551
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro) rs397508572
NM_000492.4(CFTR):c.3546C>G (p.Tyr1182Ter) rs397508581
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter) rs1800135
NM_000492.4(CFTR):c.4307_4320del (p.Leu1436fs) rs1562929573
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter) rs397508716
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro) rs1562876459
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000516.7(GNAS):c.1006dup (p.Arg336fs) rs1569031388
NM_000518.5(HBB):c.235del (p.Leu79fs) rs281865475
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000531.6(OTC):c.167T>C (p.Met56Thr) rs72554320
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) rs1424131846
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.557_559+2delinsGGGG rs1567552467
NM_000546.6(TP53):c.559+2del rs1567552459
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.869G>T (p.Arg290Leu) rs55819519
NM_000552.5(VWF):c.3917G>C (p.Arg1306Pro) rs61749385
NM_000552.5(VWF):c.4645G>A (p.Glu1549Lys) rs267607347
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) rs33931314
NM_001033855.3(DCLRE1C):c.1679dup (p.Leu560fs)
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2509T>C (p.Trp837Arg) rs587781747
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.3566A>G (p.Gln1189Arg) rs752039618
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.4724+1G>A rs1555619056
NM_001042492.3(NF1):c.5609+5G>T rs1597832498
NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly) rs1597866846
NM_001065.4(TNFRSF1A):c.305G>A (p.Cys102Tyr) rs1555108112
NM_001100.4(ACTA1):c.37G>A (p.Asp13Asn) rs1571894217
NM_001114753.3(ENG):c.781T>G (p.Trp261Gly) rs1554810223
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001163809.2(WDR81):c.5326-1G>A rs2151177215
NM_001182.5(ALDH7A1):c.1548C>A (p.Tyr516Ter)
NM_001256627.2(BRSK2):c.1532_1533del (p.Glu511fs) rs1135402760
NM_001256627.2(BRSK2):c.635G>A (p.Gly212Glu) rs1554904772
NM_001267550.2(TTN):c.87616G>T (p.Glu29206Ter) rs1364550008
NM_001267550.2(TTN):c.94178_94179insTCTAG (p.Lys31393fs) rs1553526134
NM_001267550.2(TTN):c.94179_94180insAG (p.Pro31394fs) rs1553526116
NM_001276345.2(TNNT2):c.1A>G (p.Met1Val) rs1228403814
NM_001370259.2(MEN1):c.1391del (p.Ala464fs) rs1555163858
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370658.1(BTD):c.248del (p.Lys83fs) rs1553652177
NM_001377.3(DYNC2H1):c.11450T>C (p.Phe3817Ser)
NM_001378452.1(ITPR1):c.731A>G (p.His244Arg) rs1085308010
NM_001385012.1(NBEA):c.2836C>T (p.His946Tyr) rs869312667
NM_001385012.1(NBEA):c.6637C>T (p.Arg2213Ter) rs878853169
NM_001385012.1(NBEA):c.955G>T (p.Asp319Tyr) rs2152563427
NM_001393769.1(MED12L):c.6097C>T (p.Gln2033Ter) rs1553815325
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001457.4(FLNB):c.2251G>C (p.Gly751Arg) rs28937587
NM_001457.4(FLNB):c.502G>T (p.Gly168Cys) rs80356504
NM_001492.6(GDF1):c.768_823del (p.Pro257fs)
NM_001540.5(HSPB1):c.512del (p.Lys171fs) rs1554614680
NM_001673.5(ASNS):c.97C>T (p.Arg33Cys) rs759224338
NM_001770.6(CD19):c.1303+1G>C rs372929312
NM_001844.5(COL2A1):c.1367G>T (p.Gly456Val) rs1555167372
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg) rs794727472
NM_001844.5(COL2A1):c.1934G>C (p.Gly645Ala) rs1592214400
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp) rs1555166537
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser) rs1555165245
NM_001844.5(COL2A1):c.3157G>A (p.Gly1053Arg) rs1555165237
NM_001972.4(ELANE):c.641G>T (p.Gly214Val) rs1555710089
NM_002397.5(MEF2C):c.1095G>C (p.Gln365His) rs1581321362
NM_002693.3(POLG):c.3409dup (p.Val1137fs) rs1555452461
NM_002769.5(PRSS1):c.311T>C (p.Leu104Pro) rs1554499091
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002971.6(SATB1):c.1280G>A (p.Arg427Gln)
NM_003051.4(SLC16A1):c.97T>N (p.Ser33Xaa)
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1561T>C (p.Trp521Arg) rs1575166666
NM_003745.2(SOCS1):c.192C>G (p.Tyr64Ter) rs2141125120
NM_004004.6(GJB2):c.193T>C (p.Tyr65His) rs886037849
NM_004006.3(DMD):c.5922+4A>G rs1603631218
NM_004093.4(EFNB2):c.219T>G (p.Tyr73Ter) rs1879182475
NM_004380.3(CREBBP):c.2464-2A>G
NM_004444.5(EPHB4):c.2450G>A (p.Gly817Glu) rs1584653660
NM_004444.5(EPHB4):c.2533T>C (p.Cys845Arg) rs1584653054
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp) rs769965440
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter) rs1555178616
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn) rs267606706
NM_005269.3(GLI1):c.1796del (p.Gly599fs) rs758888293
NM_005535.3(IL12RB1):c.1021+1G>A
NM_005654.6(NR2F1):c.319A>G (p.Lys107Glu)
NM_006586.5(CNPY3):c.496-3_496-2del rs1581718297
NM_006946.4(SPTBN2):c.1042A>G (p.Asn348Asp) rs1554987311
NM_006946.4(SPTBN2):c.1043A>T (p.Asn348Ile) rs797046005
NM_007103.4(NDUFV1):c.155+1G>A rs1565224383
NM_007294.4(BRCA1):c.4321G>A (p.Asp1441Asn)
NM_012062.5(DNM1L):c.436G>A (p.Asp146Asn) rs1057523861
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del) rs2148715376
NM_015404.4(WHRN):c.837+1del rs749910508
NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val) rs1303667371
NM_015713.5(RRM2B):c.184T>N (p.Ser62Xaa)
NM_015937.6(PIGT):c.1724_1725insA (p.Leu578fs) rs2145478387
NM_016239.4(MYO15A):c.2065dup (p.Arg689fs) rs1332576936
NM_016239.4(MYO15A):c.7476_7477del (p.Lys2492fs) rs1305675114
NM_016485.5(VTA1):c.52C>T (p.Gln18Ter)
NM_017780.4(CHD7):c.4654G>T (p.Val1552Phe) rs1586426507
NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg) rs1554817910
NM_020822.3(KCNT1):c.1661G>A (p.Gly554Glu) rs1588359968
NM_024675.4(PALB2):c.1939_1940insT (p.His647fs) rs1966863209
NM_024675.4(PALB2):c.2127_2128del (p.Thr710fs) rs2142380442
NM_024753.5(TTC21B):c.370_380del (p.His124fs) rs1237271536
NM_030632.3(ASXL3):c.4806_4809dup (p.Ser1604fs)
NM_032043.3(BRIP1):c.2258-1G>A rs1064793887
NM_032141.4(NSRP1):c.24T>G (p.Tyr8Ter)
NM_033380.3(COL4A5):c.2821G>C (p.Gly941Arg) rs104886196
NM_033380.3(COL4A5):c.800G>T (p.Gly267Val) rs1556406775
NM_170707.4(LMNA):c.3G>C (p.Met1Ile) rs794728598
NM_177438.3(DICER1):c.2461C>T (p.Arg821Cys) rs1891611876
NM_177438.3(DICER1):c.4889G>T (p.Arg1630Leu) rs368343829
NM_177438.3(DICER1):c.5604-1G>A rs1889714810
NM_177438.3(DICER1):c.5729G>A (p.Arg1910Gln) rs1555365979
NM_198253.3(TERT):c.2329G>A (p.Val777Met) rs1554040129
Single allele

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