ClinVar Miner

List of variants reported as pathogenic for auditory system disorder by ClinGen Hearing Loss Variant Curation Expert Panel

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593 0.00004
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp) rs750880909 0.00002
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567 0.00001
NM_016239.4(MYO15A):c.10045C>T (p.Gln3349Ter) rs1345580310 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys) rs1302739538
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del) rs797044966
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) rs28937588
NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs) rs1567620939
NM_016239.4(MYO15A):c.4176C>A (p.Tyr1392Ter) rs1199192203
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590

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