ClinVar Miner

List of variants reported as likely pathogenic for auditory system disease by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NC_000001.11:g.215741537del
NM_000091.5(COL4A3):c.3672del (p.Pro1226fs)
NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg)
NM_000092.4(COL4A4):c.2320G>C rs569681869
NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro) rs1057518910
NM_000166.6(GJB1):c.502T>G (p.Cys168Gly) rs1057518780
NM_000166.6(GJB1):c.584T>C (p.Leu195Pro) rs1569215413
NM_000260.4(MYO7A):c.6409G>A (p.Gly2137Arg)
NM_000266.4(NDP):c.268C>T (p.Arg90Cys) rs1057518793
NM_000441.2(SLC26A4):c.1693T>G (p.Cys565Gly) rs767255075
NM_000441.2(SLC26A4):c.299T>C (p.Leu100Pro) rs1057518810
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001354604.2(MITF):c.794A>G (p.Tyr265Cys) rs1057518765
NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp) rs1057518908
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys)
NM_015100.4(POGZ):c.402_409dup (p.His137fs) rs1057518799
NM_015631.6(TCTN3):c.1760C>A (p.Ser587Ter)
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter)
NM_033380.3(COL4A5):c.1997G>A (p.Gly666Asp) rs104886153
NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val)
NM_033380.3(COL4A5):c.287G>T (p.Gly96Val)
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg) rs104886060
NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp) rs104886086
NM_052859.4(RFT1):c.740dup (p.Lys248fs)
NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val) rs745434198
NM_194248.3(OTOF):c.2677-2A>G rs1057518840
NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.3(USH2A):c.6722C>A (p.Pro2241His) rs1057518826
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs)
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990

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