ClinVar Miner

List of variants in gene MLYCD reported as benign for malonic aciduria

Included ClinVar conditions (1):
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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_012213.3(MLYCD):c.*412T>C rs1127382 0.12522
NM_012213.3(MLYCD):c.*460A>C rs1127387 0.10180
NM_012213.3(MLYCD):c.642-5C>T rs2278037 0.07436
NM_012213.3(MLYCD):c.642-12A>T rs2278036 0.07434
NM_012213.3(MLYCD):c.529-8C>T rs3815806 0.06693
NM_012213.3(MLYCD):c.732G>A (p.Ser244=) rs2278038 0.04474
NM_012213.3(MLYCD):c.444C>T (p.Asp148=) rs62640904 0.03566
NM_012213.3(MLYCD):c.1464A>G (p.Gln488=) rs1127368 0.00870
NM_012213.3(MLYCD):c.*618G>C rs75701127 0.00812
NM_012213.3(MLYCD):c.206C>T (p.Ala69Val) rs200579941 0.00284
NM_012213.3(MLYCD):c.776G>C (p.Gly259Ala) rs77493891 0.00265
NM_012213.3(MLYCD):c.408C>G (p.Arg136=) rs183593320 0.00108
NM_012213.3(MLYCD):c.375C>G (p.Ala125=) rs375657338 0.00096
NM_012213.3(MLYCD):c.541G>A (p.Val181Met) rs147617160 0.00061
NM_012213.3(MLYCD):c.232C>T (p.Leu78=) rs541503395 0.00052
NM_012213.3(MLYCD):c.1098C>T (p.Ile366=) rs199549095 0.00048
NM_012213.3(MLYCD):c.1074G>A (p.Ser358=) rs377161125 0.00043
NM_012213.3(MLYCD):c.1328G>C (p.Gly443Ala) rs200278015 0.00025
NM_012213.3(MLYCD):c.393C>T (p.Tyr131=) rs560831102 0.00015
NM_012213.3(MLYCD):c.*254C>G rs375604861 0.00009
NM_012213.3(MLYCD):c.1203G>A (p.Leu401=) rs200341673 0.00004
NM_012213.3(MLYCD):c.*27C>T rs565054759 0.00001
NM_012213.3(MLYCD):c.267C>T (p.Gly89=) rs561775245 0.00001
NM_012213.3(MLYCD):c.*671C>T rs74830340
NM_012213.3(MLYCD):c.1245G>A (p.Ala415=)
NM_012213.3(MLYCD):c.1368C>T (p.Tyr456=)

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