List of variants in gene FAH reported by OMIM

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)	rs11555096	0.02131
NM_000137.4(FAH):c.1062+5G>A	rs80338901	0.00028
NM_000137.4(FAH):c.554-1G>T	rs80338895	0.00010
NM_000137.4(FAH):c.786G>A (p.Trp262Ter)	rs80338899	0.00009
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter)	rs121965075	0.00008
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)	rs80338900	0.00006
NM_000137.4(FAH):c.1090G>T (p.Glu364Ter)	rs121965076	0.00002
NM_000137.4(FAH):c.836A>G (p.Gln279Arg)	rs121965078	0.00001
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly)	rs121965077
NM_000137.4(FAH):c.401C>A (p.Ala134Asp)	rs121965074
NM_000137.4(FAH):c.47A>T (p.Asn16Ile)	rs121965073

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