ClinVar Miner

List of variants in gene PMM2 reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NC_000016.9:g.(?_8904926)_(8926102_?)del
NC_000016.9:g.(?_8941558)_(8941692_?)del
NM_000303.3(PMM2):c.255+1G>A rs1060499598
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr) rs150577656
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)

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