ClinVar Miner

List of variants in gene ACLY reported as uncertain significance by Martin Pollak Laboratory, Beth Israel Deaconess Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001096.3(ACLY):c.-67C>T rs387907380 0.00013
NM_001096.3(ACLY):c.1395G>A (p.Ala465=) rs387907379 0.00003
NM_001096.3(ACLY):c.652G>A (p.Ala218Thr) rs387907387 0.00002
NM_001096.3(ACLY):c.1484G>A (p.Arg495His) rs387907386 0.00001
NM_001096.3(ACLY):c.1122A>C (p.Thr374=) rs387907382
NM_001096.3(ACLY):c.1765G>A (p.Ala589Thr) rs387907381
NM_001096.3(ACLY):c.2747C>T (p.Ala916Val) rs387907385
NM_001096.3(ACLY):c.2895G>A (p.Lys965=) rs387907388
NM_001096.3(ACLY):c.465C>A (p.Gly155=) rs387907384
NM_001096.3(ACLY):c.789C>T (p.Ser263=) rs387907383

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