ClinVar Miner

List of variants in gene combination MDH1, WDPCP studied for not specified

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_005917.4(MDH1):c.766G>A (p.Asp256Asn) rs116232314 0.00018
NM_005917.4(MDH1):c.815T>C (p.Ile272Thr) rs746951614 0.00005
NM_005917.4(MDH1):c.787G>C (p.Glu263Gln) rs777273416 0.00003
NM_005917.4(MDH1):c.962C>T (p.Thr321Ile) rs201860319 0.00003
NM_005917.4(MDH1):c.917A>C (p.Asn306Thr) rs777304823 0.00002
NM_005917.4(MDH1):c.67A>G (p.Ser23Gly) rs199668515 0.00001
NM_005917.4(MDH1):c.847G>C (p.Asp283His) rs201106688 0.00001
NM_005917.4(MDH1):c.3+295G>C rs2468577100
NM_005917.4(MDH1):c.340G>A (p.Ala114Thr) rs2468615890
NM_005917.4(MDH1):c.515G>T (p.Gly172Val)
NM_005917.4(MDH1):c.673A>G (p.Thr225Ala)
NM_005917.4(MDH1):c.697G>A (p.Ala233Thr) rs2468650647
NM_005917.4(MDH1):c.725G>A (p.Ser242Asn)
NM_005917.4(MDH1):c.805A>G (p.Met269Val) rs892406351
NM_005917.4(MDH1):c.931G>A (p.Glu311Lys) rs1709543656
NM_005917.4(MDH1):c.952A>G (p.Lys318Glu)
NM_005917.4(MDH1):c.992T>C (p.Leu331Pro)
NM_005917.4(MDH1):c.998C>T (p.Ser333Phe)

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