ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 3 by 3billion

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.7547C>T (p.Ala2516Val) rs201073816 0.00009
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs) rs766187994 0.00006
NM_016239.4(MYO15A):c.2419C>T (p.Gln807Ter) rs1233145763 0.00001
NM_016239.4(MYO15A):c.581G>A (p.Arg194His) rs1423809264 0.00001
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del) rs760069953
NM_016239.4(MYO15A):c.10475dup (p.Leu3493fs) rs2142436821
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) rs772536599
NM_016239.4(MYO15A):c.1205_1224del (p.Pro402fs) rs2142244867
NM_016239.4(MYO15A):c.1657del (p.Arg553fs)
NM_016239.4(MYO15A):c.1858G>T (p.Glu620Ter) rs1445431722
NM_016239.4(MYO15A):c.3928T>G (p.Cys1310Gly) rs2142282291
NM_016239.4(MYO15A):c.4228C>T (p.His1410Tyr) rs2142304025
NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs) rs2142363190
NM_016239.4(MYO15A):c.8549G>C (p.Arg2850Pro) rs568612566
NM_016239.4(MYO15A):c.8601+2T>G
NM_016239.4(MYO15A):c.900del (p.Pro301fs) rs2142242418
NM_016239.4(MYO15A):c.9517G>A (p.Gly3173Arg) rs2046776291
NM_016239.4(MYO15A):c.9518-2A>G

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