ClinVar Miner

List of variants in gene PMM2 reported by Preventiongenetics, part of Exact Sciences

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146 0.01239
NM_000303.3(PMM2):c.447+22T>A rs137862339 0.00475
NM_000303.3(PMM2):c.347+40G>A rs142123453 0.00385
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000303.3(PMM2):c.384C>T (p.Asn128=) rs147068457 0.00004
NM_000303.3(PMM2):c.190del (p.Tyr64fs) rs1339004837
NM_000303.3(PMM2):c.447+19T>C rs11074924
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708

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