ClinVar Miner

List of variants reported as pathogenic for auditory system disease by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP
NC_000015.10:g.(?_43638998)_(43639062_?)del
NC_000023.11:g.(?_101346475)_(101348757_?)del
NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter) rs121434324
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter) rs121965079
NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter) rs727503528
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) rs1553704814
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) rs80338797
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser) rs121918468
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923
NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter)
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs)
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_007123.5(USH2A):c.1803del (p.Gly602fs) rs1553327452
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter) rs764091969
NM_016239.4(MYO15A):c.5851del (p.Ser1951fs) rs727504995
NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter) rs875989879
NM_017780.4(CHD7):c.7276del (p.Gln2426fs)
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662
NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter) rs797045112
NM_206933.2(USH2A):c.4396+6857_6486-425del
NM_206933.2:c.(?_4628)_(9371_?)del
NM_206933.3(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter) rs767078782
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.12295-3T>A rs111033518
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter) rs797045113
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280
NM_206933.4(USH2A):c.8681+1G>A rs876657733
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048

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