ClinVar Miner

List of variants in gene POMT2 reported as uncertain significance by GeneDx

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Total variants: 14
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HGVS dbSNP
NM_013382.5(POMT2):c.1006+5G>A rs587780422
NM_013382.5(POMT2):c.1045C>T (p.Arg349Trp) rs141339355
NM_013382.5(POMT2):c.1090G>A (p.Glu364Lys) rs772255938
NM_013382.5(POMT2):c.1186C>T (p.Pro396Ser) rs764723711
NM_013382.5(POMT2):c.1229A>T (p.Asp410Val) rs886043224
NM_013382.5(POMT2):c.128A>G (p.Lys43Arg) rs745417690
NM_013382.5(POMT2):c.134C>G (p.Pro45Arg) rs753037500
NM_013382.5(POMT2):c.1627C>A (p.Leu543Met) rs367552151
NM_013382.5(POMT2):c.1903G>A (p.Val635Ile) rs142299878
NM_013382.5(POMT2):c.1927G>C (p.Val643Leu) rs966965226
NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.5(POMT2):c.50G>C (p.Arg17Pro) rs753326186
NM_013382.5(POMT2):c.649G>A (p.Ala217Thr) rs144748043
NM_013382.5(POMT2):c.769A>G (p.Thr257Ala) rs371988132

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