ClinVar Miner

List of variants in gene DMGDH studied for not specified

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_013391.3(DMGDH):c.372T>G (p.Gly124=) rs2253262 0.63570
NM_013391.3(DMGDH):c.1815-9A>G rs2303129 0.33309
NM_013391.3(DMGDH):c.1936T>C (p.Ser646Pro) rs1805074 0.33290
NM_013391.3(DMGDH):c.1589C>G (p.Ala530Gly) rs1805073 0.27419
NM_013391.3(DMGDH):c.1467C>T (p.Gly489=) rs1805072 0.19744
NM_013391.3(DMGDH):c.2250+9A>G rs2303128 0.06661
NM_013391.3(DMGDH):c.1097A>G (p.Asn366Ser) rs77116243 0.00913
NM_013391.3(DMGDH):c.-12C>G rs57739060 0.00754
NM_013391.3(DMGDH):c.1518-16A>C rs116060294 0.00720
NM_013391.3(DMGDH):c.1518-4T>A rs72764929 0.00564
NM_013391.3(DMGDH):c.277-7T>G rs146240837 0.00450
NM_013391.3(DMGDH):c.898C>T (p.Leu300Phe) rs145258663 0.00421
NM_013391.3(DMGDH):c.746-11T>C rs111803146 0.00224
NM_013391.3(DMGDH):c.1364-19A>G rs75001541 0.00149
NM_013391.3(DMGDH):c.1533C>T (p.Arg511=) rs142541710 0.00032
NM_013391.3(DMGDH):c.78G>T (p.Pro26=) rs556440039 0.00026
NM_013391.3(DMGDH):c.2196C>T (p.Asn732=) rs193210109 0.00020
NM_013391.3(DMGDH):c.276+16C>G rs201538877 0.00015
NM_013391.3(DMGDH):c.1815-5C>T rs371689941 0.00013
NM_013391.3(DMGDH):c.2385+12G>C rs200356715 0.00006
NM_013391.3(DMGDH):c.2033-17C>T rs148572384 0.00005
NM_013391.3(DMGDH):c.-16C>G rs1315182853 0.00003
NM_013391.3(DMGDH):c.1777T>C (p.Leu593=) rs139749124 0.00003
NM_013391.3(DMGDH):c.1779A>G (p.Leu593=) rs760774513 0.00003
NM_013391.3(DMGDH):c.2385+11A>C rs369624925 0.00003
NM_013391.3(DMGDH):c.1401G>A (p.Pro467=) rs534488827 0.00002
NM_013391.3(DMGDH):c.102-4C>T rs751569422 0.00001
NM_013391.3(DMGDH):c.1363+8A>G rs1554035707 0.00001
NM_013391.3(DMGDH):c.1479G>A (p.Pro493=) rs762477431 0.00001
NM_013391.3(DMGDH):c.480A>G (p.Glu160=) rs1057522583 0.00001
NM_013391.3(DMGDH):c.101+14C>T rs1017199728
NM_013391.3(DMGDH):c.1363+6G>A rs1554035710
NM_013391.3(DMGDH):c.336C>T (p.Ser112=) rs1057522402
NM_013391.3(DMGDH):c.678A>G (p.Ser226=) rs1057521498

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