ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002906.4(RDX):c.1135C>T (p.Arg379Ter) rs772146113 0.00001
NM_002906.4(RDX):c.-64-1215_12+348del
NM_002906.4(RDX):c.1076_1079del (p.Ile359fs)
NM_002906.4(RDX):c.1141C>T (p.Arg381Ter) rs1308348441
NM_002906.4(RDX):c.295C>T (p.Gln99Ter)
NM_002906.4(RDX):c.513_514del (p.Arg171fs) rs2134364635

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