List of variants in gene MMACHC reported by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.321G>A (p.Val107=)	rs2275276	0.43226
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_015506.3(MMACHC):c.165G>A (p.Thr55=)	rs369883781	0.00010
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	rs370596113	0.00006
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter)	rs759188647	0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	rs121918241	0.00001
NM_015506.3(MMACHC):c.547_548del (p.Val183fs)	rs1305170860
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)	rs201025783
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)	rs201025783

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