ClinVar Miner

List of variants in gene POMT2 reported as uncertain significance by Athena Diagnostics Inc

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Total variants: 11
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HGVS dbSNP
NM_013382.5(POMT2):c.1045C>T (p.Arg349Trp) rs141339355
NM_013382.5(POMT2):c.1485-3C>T rs754892193
NM_013382.5(POMT2):c.1654-8T>G rs780532724
NM_013382.5(POMT2):c.1691C>T (p.Thr564Met) rs142445941
NM_013382.5(POMT2):c.1701C>G (p.Pro567=) rs151051452
NM_013382.5(POMT2):c.1870C>T (p.Arg624Trp) rs749335757
NM_013382.5(POMT2):c.1903G>A (p.Val635Ile) rs142299878
NM_013382.5(POMT2):c.229G>A (p.Asp77Asn) rs200992827
NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.5(POMT2):c.275T>C (p.Met92Thr)
NM_013382.5(POMT2):c.806G>A (p.Ser269Asn) rs375217032

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