ClinVar Miner

List of variants reported as uncertain significance for auditory system disorder by Mendelics

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg) rs372509310 0.00043
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp) rs781834630 0.00005
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln) rs781812509 0.00004
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) rs727504710 0.00003
NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp) rs1173853484 0.00001
NM_004999.4(MYO6):c.647A>T (p.Glu216Val) rs121912559 0.00001
NM_001145026.2(PTPRQ):c.6452_6453+2del rs1419198127
NM_004208.4(AIFM1):c.1241T>C (p.Ile414Thr) rs1603222490
NM_005219.5(DIAPH1):c.3157G>T (p.Glu1053Ter) rs1003389476
NM_016239.4(MYO15A):c.2972G>C (p.Gly991Ala) rs1597757405
NM_016239.4(MYO15A):c.3724C>T (p.Leu1242Phe) rs1364265842
NM_138691.3(TMC1):c.2163G>C (p.Lys721Asn) rs1588105861

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