List of variants in gene ECHS1 reported by Mendelics

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)	rs150321966	0.00012
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser)	rs761989177	0.00006
NM_004092.4(ECHS1):c.161G>A (p.Arg54His)	rs375266808	0.00002
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr)	rs770931871	0.00002
NM_004092.4(ECHS1):c.713C>T (p.Ala238Val)	rs200584793	0.00002
NM_004092.4(ECHS1):c.740C>T (p.Ala247Val)	rs762885546	0.00001
NM_004092.4(ECHS1):c.796A>G (p.Thr266Ala)	rs770614061	0.00001
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs)	rs746519257
NM_004092.4(ECHS1):c.250G>A (p.Ala84Thr)	rs2133443188
NM_004092.4(ECHS1):c.457T>A (p.Tyr153Asn)	rs2133441975
NM_004092.4(ECHS1):c.563C>T (p.Ala188Val)	rs1164154836
NM_004092.4(ECHS1):c.637T>C (p.Cys213Arg)	rs1589880497

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