ClinVar Miner

List of variants reported as pathogenic for auditory system disorder by Mendelics

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_016239.4(MYO15A):c.3524dup (p.Ser1176fs) rs766187994 0.00006
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_005548.3(KARS1):c.1430G>A (p.Arg477His) rs778748895 0.00002
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter) rs1591310948 0.00001
NC_012920.1:m.7443A>G rs397507452
NC_012920.1:m.7445A>G rs199474818
NC_012920.1:m.7445A>T rs199474818
NM_000260.4(MYO7A):c.1198_1199dup (p.Gly401fs) rs1591287317
NM_000260.4(MYO7A):c.183del (p.Thr62fs) rs1446588093
NM_000260.4(MYO7A):c.2750del (p.Glu917fs) rs1591378140
NM_000260.4(MYO7A):c.285+2T>C rs782292032
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000260.4(MYO7A):c.6439-1G>A rs1591514873
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro) rs1271250198
NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter) rs1597752877
NM_017433.5(MYO3A):c.3948dup (p.Cys1317fs) rs1589079163
NM_144672.4(OTOA):c.1320+2T>C rs1567381218
NM_194248.3(OTOF):c.1236del (p.Glu413fs) rs397515581
m.7445A>C rs199474818

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