ClinVar Miner

List of variants reported as pathogenic by Center for Statistical Genetics, Columbia University

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ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_003805.5(CRADD):c.509G>A (p.Arg170His) rs141179774 0.00053
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004447.6(EPS8):c.205-8A>G rs180899529 0.00002
NM_005908.4(MANBA):c.2158-2A>G rs772852668 0.00002
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys) rs878854411 0.00002
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val) rs1562822565 0.00001
NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter) rs367688416 0.00001
NM_001145678.3(KIAA0825):c.2173A>T (p.Lys725Ter) rs956457873 0.00001
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) rs201866631 0.00001
NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr) rs763320093 0.00001
GRCh37/hg19 16p13.11(chr16:15737239-15820210)
GRCh37/hg19 21q22.13(chr21:38719388-38887895)
GRCh38/hg38 Xp11.22(chrX:54038034-54049437)x0
Multiple alleles
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro) rs1565430886
NM_000260.4(MYO7A):c.5326+3A>G rs1565469959
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg) rs746667217
NM_000441.2(SLC26A4):c.1264-3C>G rs1562835391
NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter) rs1562817529
NM_000441.2(SLC26A4):c.42del (p.Glu15fs) rs1562817224
NM_001037333.3(CYFIP2):c.1918G>A (p.Glu640Lys) rs1760957806
NM_001038603.3(MARVELD2):c.1224dup (p.Val409fs) rs1561299289
NM_001042702.5(PJVK):c.158C>G (p.Ser53Ter) rs538027448
NM_001042702.5(PJVK):c.162_172del (p.Pro55fs) rs1559366084
NM_001080476.3(GRXCR1):c.655G>A (p.Glu219Lys) rs1560690591
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) rs267608382
NM_001142966.3(GREB1L):c.4368G>T (p.Gln1456His) rs1555661490
NM_001142966.3(GREB1L):c.982C>T (p.Arg328Ter) rs1555648043
NM_001145026.2(PTPRQ):c.5158_5159del (p.Ile1720fs) rs1565819402
NM_001145026.2(PTPRQ):c.6739-1G>A rs1565855932
NM_001145678.3(KIAA0825):c.591dup (p.Gln198fs) rs1562587032
NM_001165963.4(SCN1A):c.3530C>G (p.Pro1177Arg) rs752060724
NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs) rs1559870857
NM_001292063.2(OTOG):c.7199del (p.Cys2400fs) rs1565127413
NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln) rs878854416
NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp) rs878854417
NM_001348768.2(HECW2):c.4333G>C (p.Glu1445Gln) rs1687613797
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln) rs797044901
NM_003805.5(CRADD):c.2T>C (p.Met1Thr) rs772665884
NM_004004.6(GJB2):c.355G>T (p.Glu119Ter) rs150529554
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004070.4(CLCNKA):c.1985G>T (p.Gly662Val) rs1557458426
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005422.4(TECTA):c.1774G>A (p.Val592Met) rs1565522273
NM_006009.4(TUBA1A):c.303T>A (p.Asn101Lys)
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006922.4(SCN3A):c.4862G>A (p.Arg1621Gln) rs1199412903
NM_007059.4(KPTN):c.736C>T (p.Gln246Ter)
NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu) rs755804651
NM_015114.3(ANKLE2):c.1870C>T (p.Arg624Ter) rs1380982250
NM_015404.4(WHRN):c.2388_2389del (p.Asn796fs) rs1564113368
NM_015631.6(TCTN3):c.257-1G>A rs1589623689
NM_016239.4(MYO15A):c.3944G>A (p.Gly1315Glu) rs878854410
NM_016239.4(MYO15A):c.4780G>C (p.Asp1594His) rs878854412
NM_016239.4(MYO15A):c.5335del (p.Leu1779fs) rs878854413
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys) rs749465098
NM_016239.4(MYO15A):c.6146C>A (p.Pro2049His) rs878854414
NM_016239.4(MYO15A):c.6178-2A>G rs878854415
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) rs779445819
NM_016239.4(MYO15A):c.742C>G (p.Arg248Gly) rs878854409
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro) rs762118583
NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs) rs1564805114
NM_031263.4(HNRNPK):c.1294del (p.Asp432fs) rs1956764279
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_032436.4(CHAMP1):c.1858A>T (p.Lys620Ter) rs2087240702
NM_138691.3(TMC1):c.1209G>A (p.Trp403Ter) rs773851192
NM_138691.3(TMC1):c.1224+2T>C rs1564555240
NM_138691.3(TMC1):c.1728C>G (p.Asn576Lys) rs761261855
NM_138691.3(TMC1):c.945G>A (p.Trp315Ter) rs1564554255
NM_152564.5(VPS13B):c.8766G>A (p.Trp2922Ter) rs2130816341
NM_173477.5(USH1G):c.812del (p.Pro271fs) rs1567939793
NM_173477.5(USH1G):c.854dup (p.Ala286fs) rs1567939718
NM_178012.5(TUBB2B):c.776C>T (p.Pro259Leu)
NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro) rs1558490542
NM_194248.3(OTOF):c.3376dup (p.Ile1126fs) rs1558480402
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter) rs767797828
Single allele

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