List of variants in gene MMADHC reported as uncertain significance for Inborn genetic diseases

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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.557T>C (p.Met186Thr)	rs61755260	0.00027
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser)	rs767542742	0.00006
NM_015702.3(MMADHC):c.236G>A (p.Gly79Asp)	rs566530487	0.00004
NM_015702.3(MMADHC):c.638A>G (p.Tyr213Cys)	rs376590291	0.00004
NM_015702.3(MMADHC):c.845A>G (p.Asn282Ser)	rs761758709	0.00003
NM_015702.3(MMADHC):c.155-3C>T	rs773403678	0.00001
NM_015702.3(MMADHC):c.245G>A (p.Cys82Tyr)	rs368471008	0.00001
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)	rs533388008	0.00001
NM_015702.3(MMADHC):c.536C>T (p.Thr179Ile)	rs777727132	0.00001
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)	rs749521854
NM_015702.3(MMADHC):c.176A>C (p.Asp59Ala)	rs781154636
NM_015702.3(MMADHC):c.336T>A (p.His112Gln)
NM_015702.3(MMADHC):c.449T>C (p.Ile150Thr)
NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile)	rs762133931
NM_015702.3(MMADHC):c.736G>A (p.Asp246Asn)
NM_015702.3(MMADHC):c.796C>T (p.Arg266Cys)
NM_015702.3(MMADHC):c.797G>A (p.Arg266His)

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