ClinVar Miner

List of variants in gene ACAT1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946 0.00010
NM_000019.4(ACAT1):c.607A>C (p.Lys203Gln) rs200498630 0.00005
NM_000019.4(ACAT1):c.421A>T (p.Met141Leu) rs750876321 0.00001
NM_000019.4(ACAT1):c.575A>G (p.His192Arg) rs2077528154
NM_000019.4(ACAT1):c.861T>A (p.Asn287Lys) rs1351732995
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122

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