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

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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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