ClinVar Miner

List of variants studied for auditory system disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
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HGVS dbSNP
NM_000091.4(COL4A3):c.221C>T (p.Pro74Leu) rs373975901
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu) rs781163705
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser)
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.5(COL4A4):c.4130G>A (p.Arg1377Gln)
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
NM_000166.6(GJB1):c.467T>A (p.Leu156His)
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206
NM_000260.4(MYO7A):c.2003G>T (p.Arg668Leu)
NM_000260.4(MYO7A):c.2684G>A (p.Arg895His)
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610
NM_001079520.2(DACT1):c.2207C>T (p.Thr736Ile)
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala) rs397509393
NM_001145026.2(PTPRQ):c.3G>A (p.Met1Ile)
NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp)
NM_001256447.2(BCAP31):c.317C>T (p.Ala106Val)
NM_001354604.2(MITF):c.808C>T (p.Leu270=)
NM_001354604.2(MITF):c.950A>G (p.Asn317Ser)
NM_001371623.1(TCOF1):c.1330_1340del (p.Lys444fs)
NM_001378454.1(ALMS1):c.3757T>C (p.Leu1253=)
NM_001378454.1(ALMS1):c.4149dup (p.His1384fs)
NM_002160.4(TNC):c.2374G>T (p.Gly792Cys) rs150868783
NM_002241.5(KCNJ10):c.506T>C (p.Ile169Thr)
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.5(PTPN11):c.92C>G (p.Ala31Gly)
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys)
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004100.5(EYA4):c.472C>T (p.Gln158Ter)
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033
NM_005982.4(SIX1):c.1A>C (p.Met1Leu)
NM_006005.3(WFS1):c.2405T>C (p.Ile802Thr)
NM_006005.3(WFS1):c.320G>A (p.Gly107Glu)
NM_006941.4(SOX10):c.1081G>A (p.Ala361Thr)
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn) rs74315515
NM_006941.4(SOX10):c.941C>A (p.Ser314Ter)
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696
NM_014332.3(SMPX):c.29del (p.Asn10fs)
NM_015340.4(LARS2):c.1979A>T (p.Asp660Val)
NM_015425.6(POLR1A):c.1511G>A (p.Arg504His) rs142266408
NM_015425.6(POLR1A):c.1967T>C (p.Leu656Pro)
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358
NM_017780.4(CHD7):c.4787A>T (p.Asp1596Val)
NM_017780.4(CHD7):c.6272G>A (p.Trp2091Ter)
NM_017780.4(CHD7):c.7297del (p.Val2433fs) rs1064793972
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.860C>T (p.Pro287Leu)
NM_031475.3(ESPN):c.1916-1G>C
NM_032638.5(GATA2):c.659G>T (p.Ser220Ile)
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3493G>A (p.Glu1165Lys)
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270
NM_033380.3(COL4A5):c.4930T>C (p.Cys1644Arg)
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308
NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr)
NM_080680.3(COL11A2):c.3676G>A (p.Glu1226Lys)
NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His)
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571
NM_145207.3(SPATA5):c.1169T>G (p.Val390Gly)
NM_145207.3(SPATA5):c.12GAA[1] (p.Lys5del)
NM_145207.3(SPATA5):c.1822_1824del (p.Asp608del)
NM_145207.3(SPATA5):c.2527G>A (p.Ala843Thr)
NM_145207.3(SPATA5):c.983CAA[2] (p.Thr330del) rs796052243
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_174916.3(UBR1):c.1213A>G (p.Ser405Gly) rs77360687
NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter)
NM_182476.3(COQ6):c.37C>T (p.Arg13Cys)

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