ClinVar Miner

List of variants in gene ACSF3 reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr) rs375374971 0.00031
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met) rs145141190 0.00019
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val) rs148768970 0.00007
NM_001243279.3(ACSF3):c.246del (p.Cys83fs) rs772073893 0.00005
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His) rs144711526 0.00004
NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val) rs142633119 0.00004
NM_001243279.3(ACSF3):c.546G>A (p.Pro182=) rs755163107 0.00004
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter) rs746877433 0.00004
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His) rs200352879 0.00003
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter) rs201954387 0.00002
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) rs901081235 0.00002
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter) rs776995095 0.00001
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994 0.00001
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter) rs387907118 0.00001
NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp) rs754782061 0.00001
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter) rs759338401 0.00001
NM_001243279.3(ACSF3):c.-8T>A rs1210097201
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer) rs1064793662
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro) rs140328142
NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter) rs1366314967
NM_001243279.3(ACSF3):c.628A>C (p.Lys210Gln) rs538548478
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter) rs2151444797

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