ClinVar Miner

List of variants reported as pathogenic for autosomal recessive nonsyndromic hearing loss 24

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002906.4(RDX):c.698+1G>A rs1191259480 0.00001
NM_002906.4(RDX):c.1108C>T (p.Arg370Ter) rs1463925107
NM_002906.4(RDX):c.129G>A (p.Trp43Ter) rs1412883921
NM_002906.4(RDX):c.1346del (p.Ala449fs) rs2134302220
NM_002906.4(RDX):c.1405dup (p.Ala469fs) rs1372141763
NM_002906.4(RDX):c.1732G>A (p.Asp578Asn) rs121918379
NM_002906.4(RDX):c.463C>T (p.Gln155Ter) rs121918380
NM_002906.4(RDX):c.551+2T>C rs1591158999

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