ClinVar Miner

List of variants reported as likely pathogenic by Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics

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ClinVar version:
Total variants: 99
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HGVS dbSNP
Multiple alleles
NG_011977.1:g.1_264622del
NG_012059.2:g.1_302925del
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326
NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn) rs864309520
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220
NM_000070.3(CAPN3):c.2134_*219del (p.Leu712_Ter822del)
NM_000116.5(TAZ):c.836del (p.Thr279fs) rs1557194525
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.3(GBA):c.1603C>T rs747506979
NM_000157.3(GBA):c.[1197G>T];[1603C>T]
NM_000157.3(GBA):c.[1448T>C];[167T>G]
NM_000157.3(GBA):c.[1448T>C];[407C>T]
NM_000157.4(GBA):c.1177C>G (p.Leu393Val) rs878853315
NM_000157.4(GBA):c.1397T>G (p.Ile466Ser) rs878853320
NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA):c.1459G>A (p.Ala487Thr) rs878853317
NM_000157.4(GBA):c.415G>C (p.Ala139Pro) rs878853314
NM_000157.4(GBA):c.866G>C (p.Gly289Ala) rs878853321
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp) rs756345321
NM_000159.4(GCDH):c.881G>C (p.Arg294Pro) rs775606471
NM_000161.3(GCH1):c.632T>C (p.Met211Thr) rs1566658823
NM_000206.2(IL2RG):c.47T>C (p.Leu16Pro) rs879253742
NM_000235.4(LIPA):c.894G>C (p.Gln298His) rs116928232
NM_000284.4(PDHA1):c.291+1_418+1dup
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs) rs772390221
NM_000310.3(PPT1):c.133T>C (p.Cys45Arg) rs878853323
NM_000310.3(PPT1):c.532delG (p.Glu178Asnfs) rs878853325
NM_000310.3(PPT1):c.707T>A (p.Val236Glu) rs878853324
NM_000310.3(PPT1):c.713C>T (p.Pro238Leu) rs878853322
NM_000336.3(SCNN1B):c.1074C>A (p.Tyr358Ter) rs1182475940
NM_000356.4(TCOF1):c.1474G>A (p.Glu492Lys) rs764314276
NM_000359.3(TGM1):c.910A>T (p.Ile304Phe) rs753798494
NM_000380.3(XPA):c.648_649del (p.Lys217fs) rs1057519018
NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser) rs864309505
NM_000391.4(TPP1):c.1449dup (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.184del (p.Ser62fs) rs1554902217
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser) rs869025274
NM_000391.4(TPP1):c.457_490del (p.Ser153fs) rs878855331
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter) rs553522118
NM_000391.4(TPP1):c.689del (p.Phe230fs) rs1554901898
NM_000404.3(GLB1):c.[276G>A];[75+5G>C]
NM_000405.5(GM2A):c.244-2A>T rs1057519022
NM_000405.5(GM2A):c.472G>T (p.Glu158Ter) rs1057519021
NM_000426.3(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_000495.5(COL4A5):c.3960del (p.Gly1321fs) rs1131692246
NM_000520.6(HEXA):c.1259G>A (p.Trp420Ter) rs1057519465
NM_000520.6(HEXA):c.1349del (p.Ala450fs) rs1057519466
NM_000520.6(HEXA):c.1360G>C (p.Gly454Arg) rs121907978
NM_000520.6(HEXA):c.460-1G>A rs764343937
NM_000520.6(HEXA):c.616G>C (p.Val206Leu) rs543071358
NM_000520.6(HEXA):c.637T>C (p.Tyr213His) rs1057519461
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_001010867.3(IBA57):c.[167G>A];[826C>T]
NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys) rs1057519019
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283
NM_001100.3(ACTA1):c.521C>T (p.Pro174Leu) rs1057519311
NM_001128834.2(PLP1):c.365A>G (p.Lys122Arg) rs1135401759
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter) rs770905160
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670
NM_001377.3(DYNC2H1):c.10100G>T (p.Arg3367Leu) rs759549373
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657
NM_001440.4(EXTL3):c.953C>T (p.Pro318Leu) rs749621890
NM_002351.4(SH2D1A):c.138-3C>G rs1556620697
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]
NM_004006.2(DMD):c.8459G>A (p.Trp2820Ter) rs886039785
NM_004006.2(DMD):c.94_264dup
NM_004006.2:c.94_3786dup
NM_004056.6(CA8):c.100+1G>A rs1563390893
NM_004369.3(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004628.4(XPC):c.2034-1G>A rs869025275
NM_005198.4(CHKB):c.940C>T (p.Arg314Cys) rs200919604
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) rs148677674
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006796.2(AFG3L2):c.1951A>G (p.Arg651Gly) rs764254189
NM_006920.6(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_007294.3(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753
NM_013275.6(ANKRD11):c.3706C>T (p.Gln1236Ter) rs1555528356
NM_014946.3(SPAST):c.631G>A (p.Val211Ile)
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334
NM_022172.2(PC):c.[2095G>A];[2095G>T]
NM_022726.4(ELOVL4):c.289-2A>G rs1554162524
NM_024426.6(WT1):c.911C>T (p.Ser304Phe) rs267602852
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720
NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) rs137852973
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_152419.3(HGSNAT):c.836A>C (p.Asp279Ala) rs1085307112
NM_153638.3(PANK2):c.*40G>C rs1131692166
NM_170707.4(LMNA):c.91_93del (p.Glu31del) rs864309525
NM_173076.3(ABCA12):c.1657+1G>T rs758568142
NM_173076.3(ABCA12):c.5939+4A>G rs1131692156
NM_173076.3(ABCA12):c.859C>T (p.Arg287Ter) rs11891778
NM_178012.5(TUBB2B):c.33G>C (p.Gln11His) rs1135401758
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636

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