List of variants in gene combination HCFC1, LOC130068842 reported as uncertain significance for Methylmalonic acidemia with homocystinuria, type cblX

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala)	rs201714172	0.00017
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala)	rs2065338418
NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)
NM_005334.3(HCFC1):c.4481C>T (p.Pro1494Leu)

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