ClinVar Miner

List of variants reported as pathogenic for autosomal recessive nonsyndromic hearing loss 70

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser) rs202190573 0.00010
NM_033109.5(PNPT1):c.1424A>G (p.Glu475Gly) rs397514599
NM_033109.5(PNPT1):c.1748dup (p.Glu584fs) rs35239216
NM_033109.5(PNPT1):c.1818T>G (p.Val606=) rs1049082567
NM_033109.5(PNPT1):c.2234T>C (p.Met745Thr) rs1425696642
NM_033109.5(PNPT1):c.298-2A>T rs1478363532
NM_033109.5(PNPT1):c.574C>T (p.Arg192Ter)
NM_033109.5(PNPT1):c.918del (p.Val307fs) rs1696930196

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