ClinVar Miner

List of variants studied for Hearing impairment by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_002850.4(PTPRS):c.2552G>T (p.Arg851Leu) rs199604489 0.00037
NM_002850.4(PTPRS):c.3343G>A (p.Ala1115Thr) rs769925793 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_005908.4(MANBA):c.2158-2A>G rs772852668 0.00002
NM_005921.2(MAP3K1):c.548G>A (p.Arg183Gln) rs1454725137 0.00002
NM_001200.4(BMP2):c.178A>C (p.Met60Leu) rs773113395 0.00001
NM_002473.6(MYH9):c.3682G>A (p.Glu1228Lys) rs746956415 0.00001
NM_014918.5(CHSY1):c.779G>A (p.Arg260Gln) rs1280894999 0.00001
NM_000260.4(MYO7A):c.4107G>T (p.Gln1369His) rs1565440220
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_173477.5(USH1G):c.314C>T (p.Ala105Val) rs1567940507
NM_173477.5(USH1G):c.854dup (p.Ala286fs) rs1567939718

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