ClinVar Miner

List of variants in gene POMT2 reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_013382.5(POMT2):c.1485-2_1485-1delAG
NM_013382.5(POMT2):c.1754_1755delCA (p.Thr585Argfs) rs1555351894
NM_013382.5(POMT2):c.248+1G>C

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