ClinVar Miner

List of variants in gene POMT2 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 6
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HGVS dbSNP
NM_013382.5(POMT2):c.1404A>G (p.Lys468=) rs150491326
NM_013382.5(POMT2):c.148C>G (p.Arg50Gly) rs550420394
NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp) rs117173425
NM_013382.5(POMT2):c.1903G>A (p.Val635Ile) rs142299878
NM_013382.5(POMT2):c.713G>T (p.Gly238Val) rs1555354172
NM_013382.5(POMT2):c.871C>G (p.Leu291Val) rs764015186

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