List of variants in gene EHHADH studied for primary Fanconi syndrome

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_001966.4(EHHADH):c.302G>A (p.Gly101Glu)	rs142339349	0.00147
NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val)	rs140461295	0.00036
NM_001966.4(EHHADH):c.117del (p.Ala39_Val40insTer)	rs771955031	0.00004
NM_001966.4(EHHADH):c.673C>G (p.Pro225Ala)	rs762656795	0.00001
NM_001966.4(EHHADH):c.734A>G (p.Tyr245Cys)	rs1357636145	0.00001
NM_001966.4(EHHADH):c.1189dup (p.Ser397fs)
NM_001966.4(EHHADH):c.1816_1817insG (p.Thr606fs)	rs1553775828
NM_001966.4(EHHADH):c.1984G>A (p.Gly662Arg)
NM_001966.4(EHHADH):c.2011G>T (p.Gly671Trp)
NM_001966.4(EHHADH):c.42C>G (p.Ile14Met)
NM_001966.4(EHHADH):c.7G>A (p.Glu3Lys)	rs398124646

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