ClinVar Miner

List of variants studied for autosomal recessive nonsyndromic hearing loss 70

Included ClinVar conditions (2):
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.1247+29C>T rs782604 0.93874
NM_033109.5(PNPT1):c.867-47T>A rs782631 0.92991
NM_033109.5(PNPT1):c.1390C>A (p.Arg464=) rs2627765 0.48848
NM_033109.5(PNPT1):c.1074-19A>G rs782637 0.45197
NM_033109.5(PNPT1):c.361A>G (p.Ile121Val) rs782572 0.44915
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln) rs34928857 0.00131
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
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.1619A>G (p.Asn540Ser) rs202190573 0.00010
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.2213G>A (p.Arg738His) rs574670461 0.00001
NM_033109.5(PNPT1):c.*11dup rs35916020
NM_033109.5(PNPT1):c.1176+439G>A
NM_033109.5(PNPT1):c.1285-4del rs745754666
NM_033109.5(PNPT1):c.137C>G (p.Ala46Gly) rs540498342
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.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.2234T>C (p.Met745Thr) rs1425696642
NM_033109.5(PNPT1):c.298-2A>T rs1478363532
NM_033109.5(PNPT1):c.393T>G (p.Ser131Arg)
NM_033109.5(PNPT1):c.548C>T (p.Pro183Leu)
NM_033109.5(PNPT1):c.574C>T (p.Arg192Ter)
NM_033109.5(PNPT1):c.918del (p.Val307fs) rs1696930196

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