ClinVar Miner

List of variants reported as pathogenic for auditory system disease by Institute of Human Genetics, Klinikum rechts der Isar

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
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HGVS dbSNP
GRCh37/hg19 2q36.3(chr2:227942610-227945265)
GRCh37/hg19 2q36.3(chr2:228167754-228169799)
GRCh37/hg19 Xq22.3(chrX:107683356-107683436)
Multiple alleles
NC_000018.9(TXNL4A):g.77748604_77748637del34 rs786205699
NM_000082.4(ERCC8):c.481+1G>C rs1580007152
NM_000091.4(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.4(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.2746+1G>T rs1574786225
NM_000091.5(COL4A3):c.2747-1G>T rs1196996393
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter) rs1453590085
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter) rs750308686
NM_000091.5(COL4A3):c.816dup (p.Pro273fs) rs1574701767
NM_000092.4(COL4A4):c.1320_1369+2del rs1553676221
NM_000166.6(GJB1):c.783_784del (p.Ile262fs) rs1602349955
NM_000503.6(EYA1):c.1361-1G>A rs397517917
NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter) rs529483320
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001256447.2(BCAP31):c.365_366del (p.Leu122fs) rs1557047954
NM_001305563.2(TXNL4A):c.[-60-10561del];[-60-10913_-60-10880del]
NM_001305563.2(TXNL4A):c.[-60-10655C>T];[-60-10913_-60-10880del]
NM_001305563.2(TXNL4A):c.[-60-10913_-60-10880del];[136G>T]
NM_001371623.1(TCOF1):c.1639_1640del (p.Ser547fs) rs587776583
NM_001844.5(COL2A1):c.3598-1G>A rs1592196867
NM_002968.2(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs) rs1597228568
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2224dup (p.Cys742fs) rs1578612324
NM_006005.3(WFS1):c.2638_2643del (p.Asp880_Phe881del) rs1272826809
NM_017780.4(CHD7):c.2858G>A (p.Trp953Ter) rs1554597465
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5680_5681dup (p.Ser1894fs) rs1554603818
NM_033380.3(COL4A5):c.1402C>T (p.Gln468Ter) rs1603287820
NM_033380.3(COL4A5):c.1423G>A (p.Gly475Ser) rs281874667
NM_033380.3(COL4A5):c.1424-2A>C rs759179999
NM_033380.3(COL4A5):c.1673G>A (p.Gly558Asp) rs1603290148
NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser) rs1603290681
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.188dup (p.Phe64fs) rs1603276159
NM_033380.3(COL4A5):c.1904G>T (p.Gly635Val) rs281874683
NM_033380.3(COL4A5):c.1976_1977del (p.Ile659fs) rs1603291770
NM_033380.3(COL4A5):c.2048_2050del (p.Pro683_Gly684delinsArg) rs1603292021
NM_033380.3(COL4A5):c.225del (p.Gln76fs) rs1603276180
NM_033380.3(COL4A5):c.2300dup (p.Lys768fs) rs1603293553
NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser) rs1603293570
NM_033380.3(COL4A5):c.2359G>A (p.Gly787Arg) rs1603293605
NM_033380.3(COL4A5):c.2606G>T (p.Gly869Val) rs1603297334
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val) rs281874712
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys) rs104886255
NM_033380.3(COL4A5):c.3772G>A (p.Gly1258Ser) rs1603311030
NM_033380.3(COL4A5):c.4217-1G>A rs587776402
NM_033380.3(COL4A5):c.446del (p.Pro149fs) rs104886054
NM_033380.3(COL4A5):c.4470T>G (p.Tyr1490Ter) rs1603323355
NM_033380.3(COL4A5):c.4543_4544insTTAG (p.Cys1515fs) rs1603326397
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter) rs281874753
NM_033380.3(COL4A5):c.546+2dup rs1569489353
NM_033380.3(COL4A5):c.611G>A (p.Gly204Asp) rs104886063
NM_033380.3(COL4A5):c.687del (p.Gly230fs) rs1556405926
NM_033380.3(COL4A5):c.761_762del (p.Glu254fs) rs104886443
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033380.3(COL4A5):c.973G>C (p.Gly325Arg) rs104886088
NM_052859.4(RFT1):c.775G>A (p.Gly259Ser) rs1575494302
NM_145207.3(SPATA5):c.394C>T (p.Gln132Ter) rs1220351376
NM_145207.3(SPATA5):c.700C>T (p.Gln234Ter) rs775269863
NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile)
NM_182476.3(COQ6):c.1237G>T (p.Glu413Ter) rs1594816203
NM_182476.3(COQ6):c.782C>T (p.Pro261Leu) rs371260604

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