List of variants in gene HCFC1 reported as pathogenic for disorder of metabolite absorption and transport

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_005334.3(HCFC1):c.-970T>C	rs398122908
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr)	rs397515487
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)	rs397515486
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)	rs397515485
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg)	rs869312686
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn)	rs318240758

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