List of variants in gene PNPT1 reported as uncertain significance for autosomal recessive nonsyndromic hearing loss 70

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)	rs34928857	0.00131
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly)	rs149843729	0.00034
NM_033109.5(PNPT1):c.40C>T (p.Arg14Trp)	rs199712282	0.00010
NM_033109.5(PNPT1):c.2147A>G (p.Lys716Arg)	rs1318691269	0.00002
NM_033109.5(PNPT1):c.1972C>T (p.His658Tyr)	rs1168592877	0.00001
NM_033109.5(PNPT1):c.2106G>C (p.Met702Ile)	rs148804101	0.00001
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His)	rs574670461	0.00001
NM_033109.5(PNPT1):c.1176+439G>A	rs773685426
NM_033109.5(PNPT1):c.1925_1927del (p.Val642del)	rs1572796197
NM_033109.5(PNPT1):c.2039C>T (p.Ala680Val)	rs1402295663
NM_033109.5(PNPT1):c.2067C>T (p.Ile689=)	rs2529476670
NM_033109.5(PNPT1):c.393T>G (p.Ser131Arg)	rs556778073
NM_033109.5(PNPT1):c.548C>T (p.Pro183Leu)
NM_033109.5(PNPT1):c.736A>G (p.Lys246Glu)	rs2104127478

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