ClinVar Miner

List of variants in gene POMT2 reported as pathogenic by Invitae

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Total variants: 7
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HGVS dbSNP
NM_013382.5(POMT2):c.1293dup (p.Met432fs) rs1555352706
NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter) rs368817785
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_013382.5(POMT2):c.648C>A (p.Cys216Ter) rs147871747
NM_013382.5(POMT2):c.673del (p.Trp225fs)
NM_013382.5(POMT2):c.924-2A>C rs886044256
NM_013382.5(POMT2):c.958C>T (p.Gln320Ter) rs775932206

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