ClinVar Miner

List of variants reported as likely pathogenic for auditory system disease by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 103
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HGVS dbSNP
NM_000091.4(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913
NM_000091.4(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249
NM_000091.4(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437
NM_000091.4(COL4A3):c.2002G>C (p.Gly668Arg) rs1559890352
NM_000091.4(COL4A3):c.2284G>C (p.Gly762Arg) rs983885088
NM_000091.4(COL4A3):c.2684G>A (p.Gly895Asp) rs1553760558
NM_000091.4(COL4A3):c.343G>A (p.Gly115Arg) rs202147112
NM_000091.4(COL4A3):c.361G>A (p.Gly121Ser) rs778886174
NM_000091.4(COL4A3):c.3629G>A (p.Gly1210Glu) rs1574823355
NM_000091.4(COL4A3):c.4019G>A (p.Gly1340Glu) rs748901402
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.4:c.1900G>A;c.1927G>A
NM_000091.5(COL4A3):c.1261G>A (p.Gly421Ser) rs1363441287
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.2584G>A (p.Gly862Ser) rs1574782666
NM_000091.5(COL4A3):c.2612G>A (p.Gly871Asp) rs1402894646
NM_000091.5(COL4A3):c.2878A>G (p.Lys960Glu) rs746766677
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3556G>C (p.Gly1186Arg) rs1305836268
NM_000091.5(COL4A3):c.519_520delinsAA (p.Gly174Arg) rs1574681401
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu) rs1574699782
NM_000091.5(COL4A3):c.725G>A rs1574699806
NM_000091.5(COL4A3):c.971G>A (p.Gly324Asp) rs566993466
NM_000092.4(COL4A4):c.1424G>T (p.Gly475Val) rs1559594442
NM_000092.4(COL4A4):c.1828G>A (p.Gly610Ser) rs1559563525
NM_000092.4(COL4A4):c.1907G>A (p.Gly636Asp) rs1559563141
NM_000092.4(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.4(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.4(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709
NM_000092.4(COL4A4):c.3638G>T (p.Gly1213Val) rs1559455617
NM_000092.4(COL4A4):c.3875G>A (p.Gly1292Asp) rs971779449
NM_000092.4(COL4A4):c.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.4(COL4A4):c.4090G>T (p.Gly1364Cys) rs1553622675
NM_000092.4(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.4(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.4(COL4A4):c.481G>C (p.Gly161Arg) rs755961411
NM_000092.4(COL4A4):c.4858G>A (p.Gly1620Ser) rs1271416659
NM_000092.4(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
NM_000092.4(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.596G>T (p.Gly199Val) rs1559646395
NM_000092.4(COL4A4):c.693G>A (p.Lys231=) rs1559644463
NM_000092.4(COL4A4):c.81_86del (p.27_28IL[1]) rs771943519
NM_000092.4(COL4A4):c.941G>T (p.Gly314Val) rs1005389790
NM_000092.5(COL4A4):c.1030-1G>C rs1559620132
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala)
NM_000092.5(COL4A4):c.2160_2163dup (p.Gly722fs)
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val)
NM_000092.5(COL4A4):c.3574_3577+8del rs1553627655
NM_000092.5(COL4A4):c.710del (p.Gly237fs)
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) rs1555069238
NM_000260.4(MYO7A):c.5001_5002del (p.Tyr1668fs) rs1591467918
NM_000260.4(MYO7A):c.849+5G>A rs1060499716
NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs) rs1586244371
NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu) rs886039872
NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr) rs1568839335
NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter) rs1553704841
NM_001378454.1(ALMS1):c.1437_1450del (p.Asp479fs) rs1572931120
NM_001378609.3(OTOGL):c.4536_4537del (p.Cys1512fs) rs763898293
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter) rs1597229404
NM_002968.3(SALL1):c.2287dup (p.Arg763fs) rs1597229151
NM_002968.3(SALL1):c.2801del (p.Ser934fs) rs1597228490
NM_003611.3(OFD1):c.2791_2795del (p.Lys931fs) rs1602942625
NM_006941.4(SOX10):c.428+2T>C rs1601886662
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg) rs1580624630
NM_033380.3(COL4A5):c.1129G>A (p.Gly377Arg) rs1603286154
NM_033380.3(COL4A5):c.1387G>C (p.Gly463Arg) rs1556410516
NM_033380.3(COL4A5):c.1708G>A (p.Gly570Arg) rs1603290169
NM_033380.3(COL4A5):c.1771G>A (p.Gly591Arg) rs1569494061
NM_033380.3(COL4A5):c.2183G>A (p.Gly728Glu) rs1603292422
NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu) rs1569497690
NM_033380.3(COL4A5):c.2579G>A (p.Gly860Asp) rs1556419831
NM_033380.3(COL4A5):c.2587G>A (p.Gly863Ser) rs1603297305
NM_033380.3(COL4A5):c.2615G>C (p.Gly872Ala) rs1556419869
NM_033380.3(COL4A5):c.2642G>T (p.Gly881Val) rs1556419895
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser) rs1556420349
NM_033380.3(COL4A5):c.2695G>A (p.Gly899Ser) rs1556420358
NM_033380.3(COL4A5):c.2927G>A (p.Gly976Glu) rs1603298378
NM_033380.3(COL4A5):c.2963G>A (p.Gly988Glu) rs1569498623
NM_033380.3(COL4A5):c.3052G>T (p.Gly1018Cys) rs1603298869
NM_033380.3(COL4A5):c.3152G>A (p.Gly1051Glu) rs1603298993
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp) rs1603306716
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp) rs1060499710
NM_033380.3(COL4A5):c.3554G>T (p.Gly1185Val)
NM_033380.3(COL4A5):c.3942G>A (p.Gln1314=) rs281874724
NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val) rs104886282
NM_033380.3(COL4A5):c.4529-345A>G rs1569508899
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe) rs104886287
NM_033380.3(COL4A5):c.4811C>T (p.Ser1604Phe) rs1569509257
NM_033380.3(COL4A5):c.547G>A (p.Gly183Ser) rs1556404985
NM_033380.3(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_033380.3(COL4A5):c.619G>A (p.Gly207Ser) rs1569490379
NM_033380.3(COL4A5):c.638G>T (p.Gly213Val) rs104886066
NM_033380.3(COL4A5):c.707G>A (p.Gly236Asp) rs1556406001
NM_033380.3(COL4A5):c.799G>A (p.Gly267Arg) rs1603283567
NM_033380.3(COL4A5):c.929G>T (p.Gly310Val) rs1556407064
NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys) rs913477149
NM_145207.3(SPATA5):c.1586G>A (p.Arg529Gln) rs567175477
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys) rs1565058763
NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser)
NM_206933.3(USH2A):c.9258+1G>A rs748810737

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