ClinVar Miner

List of variants reported as likely pathogenic by Broad Institute Rare Disease Group,Broad Institute

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Total variants: 51
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HGVS dbSNP
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359
NM_000310.3(PPT1):c.146T>G (p.Leu49Ter) rs1557714302
NM_000426.3(LAMA2):c.3412-2A>C rs1562449164
NM_000430.4(PAFAH1B1):c.671+5G>A rs587784280
NM_000489.5(ATRX):c.6254G>T (p.Arg2085Leu) rs1057517948
NM_000495.5(COL4A5):c.3304del (p.Asp1102fs) rs1569504068
NM_000539.3(RHO):c.408C>A (p.Tyr136Ter) rs200248198
NM_000540.2(RYR1):c.15016G>A (p.Gly5006Ser) rs1568614042
NM_000540.2(RYR1):c.3291C>T (p.Gly1097=) rs1234999215
NM_000540.2(RYR1):c.3301G>A (p.Val1101Met) rs145088074
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001077488.4(GNAS):c.303A>C (p.Lys101Asn) rs1569015549
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter) rs1558613592
NM_001151.4(SLC25A4):c.238C>G (p.Arg80Gly) rs1560841701
NM_001172646.1(PLCB4):c.1924G>A (p.Asp642Asn) rs1568763104
NM_001848.2(COL6A1):c.904-39A>G rs1569518138
NM_002420.6(TRPM1):c.2629C>T (p.Arg877Ter) rs1485132228
NM_003172.4(SURF1):c.504C>A (p.Cys168Ter) rs1564349087
NM_003383.5(VLDLR):c.1962+2T>C rs1563764078
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_004369.3(COL6A3):c.5950C>T (p.Arg1984Ter) rs771941724
NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863
NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro) rs1064796460
NM_006015.6(ARID1A):c.3067T>C (p.Trp1023Arg) rs1557612048
NM_006516.3(SLC2A1):c.621_629del (p.Glu209_Pro211del) rs1557646075
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter) rs770084716
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu) rs1567941252
NM_007347.5(AP4E1):c.1317-2A>C rs1567230528
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_016341.4(PLCE1):c.4974_4977CAGA[1] (p.Gln1660fs)
NM_017890.4(VPS13B):c.10629_10632TTTG[1] (p.Phe3545fs)
NM_018136.5(ASPM):c.688del (p.Glu230fs) rs1557966012
NM_020732.3(ARID1B):c.6473del (p.Asn2158fs) rs1562354784
NM_020988.3(GNAO1):c.662C>A (p.Ala221Asp) rs1555507479
NM_023073.3(CPLANE1):c.8696G>A (p.Trp2899Ter) rs1482303814
NM_025114.3(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.3(CEP290):c.4787_4790TAAA[1] (p.Lys1598Serfs)
NM_025114.3(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_032581.4(FAM126A):c.100_101del (p.Lys34fs) rs1562502139
NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly) rs200088200
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153
NM_139058.3(ARX):c.84C>A (p.Cys28Ter) rs932485786
NM_152384.3(BBS5):c.386+1G>T rs1559122277
NM_153704.5(TMEM67):c.1575+5G>A rs1554555063
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter) rs1562374476
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu) rs1553261891
NM_206933.3(USH2A):c.8681G>A (p.Arg2894Lys) rs1369414978
NM_213599.2(ANO5):c.649-2A>G rs773736505

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