ClinVar Miner

List of variants studied for autosomal dominant nonsyndromic hearing loss 44 by Genome-Nilou Lab

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_178335.3(CCDC50):c.50-4C>G rs188384 0.65003
NM_178335.3(CCDC50):c.976+56A>G rs293806 0.63457
NM_178335.3(CCDC50):c.1092+58C>T rs293814 0.58227
NM_178335.3(CCDC50):c.1242+10G>A rs211043 0.58210
NM_178335.3(CCDC50):c.1269C>A (p.Ser423=) rs364519 0.58203
NM_178335.3(CCDC50):c.995T>C (p.Met332Thr) rs293813 0.58148
NM_178335.3(CCDC50):c.651T>C (p.His217=) rs2028572 0.49117
NM_178335.3(CCDC50):c.773T>A (p.Ile258Asn) rs2028574 0.49112
NM_178335.3(CCDC50):c.908A>G (p.Lys303Arg) rs4677728 0.49101
NM_178335.3(CCDC50):c.976+6A>G rs4677729 0.49066

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