ClinVar Miner

List of variants studied for autosomal recessive nonsyndromic hearing loss 70 by Baylor Genetics

Included ClinVar conditions (2):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly) rs149843729 0.00038
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_033109.5(PNPT1):c.2147A>G (p.Lys716Arg) rs1318691269 0.00002
NM_033109.5(PNPT1):c.1176+439G>A
NM_033109.5(PNPT1):c.1925_1927del (p.Val642del) rs1572796197
NM_033109.5(PNPT1):c.2067C>T (p.Ile689=)
NM_033109.5(PNPT1):c.2106G>C (p.Met702Ile)
NM_033109.5(PNPT1):c.298-2A>T rs1478363532
NM_033109.5(PNPT1):c.393T>G (p.Ser131Arg)
NM_033109.5(PNPT1):c.918del (p.Val307fs) rs1696930196

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