ClinVar Miner

List of variants studied for combined oxidative phosphorylation defect type 13 by OMIM

Included ClinVar conditions (2):
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Total variants: 12
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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.1528G>C (p.Ala510Pro) rs879255657 0.00001
NM_033109.5(PNPT1):c.1160A>G (p.Gln387Arg) rs397514598
NM_033109.5(PNPT1):c.1399C>T (p.Pro467Ser) rs1696380450
NM_033109.5(PNPT1):c.1453A>G (p.Met485Val) rs767310806
NM_033109.5(PNPT1):c.1495G>C (p.Gly499Arg) rs1559094461
NM_033109.5(PNPT1):c.1579_1580insGAT (p.Tyr527Ter) rs2104038061
NM_033109.5(PNPT1):c.208T>C (p.Ser70Pro) rs1559114055
NM_033109.5(PNPT1):c.2137G>T (p.Asp713Tyr) rs752550279
NM_033109.5(PNPT1):c.404-1G>A rs863225449
NM_033109.5(PNPT1):c.407G>A (p.Arg136His) rs746356243
NM_033109.5(PNPT1):c.760C>A (p.Gln254Lys) rs778100619

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