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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_015702.3(MMADHC):c.*89T>C	rs6742604	0.99742
NM_015702.3(MMADHC):c.453G>A (p.Gln151=)	rs11545261	0.78682
NM_015702.3(MMADHC):c.479-22G>C	rs12232959	0.66236
NM_015702.3(MMADHC):c.*126A>G	rs6923	0.49161
NM_015702.3(MMADHC):c.478+6T>G	rs13402787	0.01622
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys)	rs61746421	0.01067
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile)	rs34886916	0.01066
NM_015702.3(MMADHC):c.*164A>G	rs147662711	0.00973
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)	rs61750442	0.00751
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln)	rs114276563	0.00611
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)	rs141093638	0.00181
NM_015702.3(MMADHC):c.420C>T (p.Tyr140=)	rs139369078	0.00077
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)	rs138607412	0.00051
NM_015702.3(MMADHC):c.155-11dup	rs1573878813
NM_015702.3(MMADHC):c.155-16del
NM_015702.3(MMADHC):c.735T>G (p.Thr245=)	rs530553915
NM_015702.3(MMADHC):c.846T>C (p.Asn282=)	rs559044965

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