ClinVar Miner

List of variants in gene ACSL4 reported by Ambry Genetics

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00097
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys) rs200451158 0.00046
NM_001318510.2(ACSL4):c.68A>G (p.His23Arg) rs199837852 0.00024
NM_001318510.2(ACSL4):c.1212G>A (p.Pro404=) rs370509273 0.00010
NM_001318510.2(ACSL4):c.245A>T (p.Tyr82Phe) rs372250472 0.00008
NM_001318510.2(ACSL4):c.1560C>T (p.Pro520=) rs372276636 0.00006
NM_001318510.2(ACSL4):c.403C>G (p.Pro135Ala) rs1660027301 0.00003
NM_001318510.2(ACSL4):c.458A>G (p.Asn153Ser) rs138646432 0.00003
NM_001318510.2(ACSL4):c.1509T>C (p.Asp503=) rs772803365 0.00002
NM_001318510.2(ACSL4):c.284A>G (p.Asn95Ser) rs587780270 0.00001
NM_001318510.2(ACSL4):c.90A>G (p.Ile30Met) rs750659716 0.00001
NM_001318510.2(ACSL4):c.1074G>T (p.Leu358=)
NM_001318510.2(ACSL4):c.1428T>C (p.Gly476=)
NM_001318510.2(ACSL4):c.1453A>G (p.Ile485Val)
NM_001318510.2(ACSL4):c.1508A>G (p.Asp503Gly)
NM_001318510.2(ACSL4):c.1561G>A (p.Asp521Asn) rs1556225792
NM_001318510.2(ACSL4):c.1710T>C (p.Tyr570=)
NM_001318510.2(ACSL4):c.1852G>A (p.Ala618Thr)
NM_001318510.2(ACSL4):c.1914C>A (p.Thr638=)
NM_001318510.2(ACSL4):c.386G>C (p.Cys129Ser) rs2147448072
NM_001318510.2(ACSL4):c.49C>T (p.Pro17Ser)
NM_001318510.2(ACSL4):c.763A>C (p.Ile255Leu) rs1569427252
NM_001318510.2(ACSL4):c.823A>G (p.Ile275Val)
NM_001318510.2(ACSL4):c.912G>A (p.Pro304=)

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