ClinVar Miner

List of variants in gene MMADHC reported as likely pathogenic for amino acid metabolism disease

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro) rs118204044 0.00002
NM_015702.3(MMADHC):c.10-1G>C rs1573880177 0.00001
NM_015702.3(MMADHC):c.154+1G>A rs1385597423 0.00001
NM_015702.3(MMADHC):c.372+1G>A rs755561981 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_015702.3(MMADHC):c.10-1G>A
NM_015702.3(MMADHC):c.10-2A>G
NM_015702.3(MMADHC):c.128_129del (p.His43fs) rs1162948308
NM_015702.3(MMADHC):c.154+1G>C rs1385597423
NM_015702.3(MMADHC):c.155-2A>G
NM_015702.3(MMADHC):c.202del (p.Gln68fs)
NM_015702.3(MMADHC):c.372+1G>T rs755561981
NM_015702.3(MMADHC):c.373-1G>A rs764179800
NM_015702.3(MMADHC):c.373-2A>G
NM_015702.3(MMADHC):c.478+1G>C
NM_015702.3(MMADHC):c.479-2A>G
NM_015702.3(MMADHC):c.563_566del (p.Val188fs)
NM_015702.3(MMADHC):c.567_571del (p.Trp189_Glu191delinsTer)
NM_015702.3(MMADHC):c.610-1G>A
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter) rs2105042238
NM_015702.3(MMADHC):c.664del (p.Ala222fs)
NM_015702.3(MMADHC):c.702dup (p.Gly235fs) rs1682617973
NM_015702.3(MMADHC):c.728_729del (p.Leu242_Phe243insTer)
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly) rs1408840913
NM_015702.3(MMADHC):c.739G>T (p.Glu247Ter)
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_015702.3(MMADHC):c.755T>G (p.Leu252Ter)

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