ClinVar Miner

List of variants in gene ACAT1 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000019.4(ACAT1):c.335-248C>G rs4753831 0.99435
NM_000019.4(ACAT1):c.73-189T>C rs7938367 0.99394
NM_000019.4(ACAT1):c.335-328C>G rs4753830 0.95685
NM_000019.4(ACAT1):c.731-255G>A rs10749914 0.59282
NM_000019.4(ACAT1):c.436-244T>C rs10789654 0.58899
NM_000019.4(ACAT1):c.435+78A>C rs10890817 0.49701
NM_000019.4(ACAT1):c.334+172C>G rs12226047 0.34293
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056 0.27945
NM_000019.4(ACAT1):c.1005+25C>T rs10890819 0.27470
NM_000019.4(ACAT1):c.-9T>A rs3741055 0.27272
NM_000019.4(ACAT1):c.940+84C>T rs12794010 0.26535
NM_000019.4(ACAT1):c.1005+175A>C rs10890820 0.26234
NM_000019.4(ACAT1):c.238+134A>C rs7931681 0.23898
NM_000019.4(ACAT1):c.827-158T>A rs55854804 0.16855
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041 0.16806
NM_000019.4(ACAT1):c.580-253_580-243del rs72431625 0.16801
NM_000019.4(ACAT1):c.827-71A>G rs10890818 0.16509
NM_000019.4(ACAT1):c.435+213T>G rs4754296 0.10857
NM_000019.4(ACAT1):c.579+159G>A rs3741049 0.10001
NM_000019.4(ACAT1):c.435+187G>C rs11607588 0.07231
NM_000019.4(ACAT1):c.238+23G>A rs12365364 0.02645
NM_000019.4(ACAT1):c.941-75A>C rs58807621 0.02406
NM_000019.4(ACAT1):c.940+94C>T rs12272177 0.02258
NM_000019.4(ACAT1):c.435+136G>A rs11212522 0.01998
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.-22C>G rs3741054
NM_000019.4(ACAT1):c.1005+184dup rs113949535
NM_000019.4(ACAT1):c.1006-146del rs112079311
NM_000019.4(ACAT1):c.239-8del rs201199156
NM_000019.4(ACAT1):c.435+300dup rs34242002
NM_000019.4(ACAT1):c.731-214_731-210del rs60002941
NM_000019.4(ACAT1):c.731-215_731-210dup rs60002941
NM_000019.4(ACAT1):c.826+85_826+86insGTAA rs10682490
NM_000019.4(ACAT1):c.941-14del rs5794588
NM_000019.4(ACAT1):c.941-14dup rs5794588
NM_000019.4(ACAT1):c.941-37dup rs5794587
NM_001386681.1(ACAT1):c.-199+4314_-199+4315del rs10561331

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