ClinVar Miner

List of variants studied for autosomal recessive nonsyndromic hearing loss 2 by Baylor Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000260.4(MYO7A):c.1847G>A (p.Arg616Gln) rs782410686 0.00002
NM_000260.4(MYO7A):c.5123G>A (p.Arg1708His) rs1241956038 0.00001
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903 0.00001
NM_000260.4(MYO7A):c.2083G>A (p.Ala695Thr) rs1954489249
NM_000260.4(MYO7A):c.3802_3805del (p.Thr1268fs) rs1955999847

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