ClinVar Miner

List of variants in gene PNPLA1 reported by Yale Center for Mendelian Genomics, Yale University

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro) rs781053760 0.00003
NM_001374623.1(PNPLA1):c.514G>A (p.Asp172Asn) rs373148099 0.00002
NM_001374623.1(PNPLA1):c.100G>A (p.Ala34Thr) rs1182312612 0.00001
NM_001374623.1(PNPLA1):c.335C>A (p.Ser112Tyr) rs369445146 0.00001
NM_001374623.1(PNPLA1):c.464C>T (p.Pro155Leu) rs766188849 0.00001
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu) rs376245108 0.00001
NM_001374623.1(PNPLA1):c.1300del (p.Ala434fs) rs753687060
NM_001374623.1(PNPLA1):c.157T>C (p.Ser53Pro) rs1582046125
NM_001374623.1(PNPLA1):c.158C>G (p.Ser53Trp) rs1207879599
NM_001374623.1(PNPLA1):c.362A>C (p.His121Pro) rs1407871103
NM_001374623.1(PNPLA1):c.421A>G (p.Lys141Glu) rs1582078740
NM_001374623.1(PNPLA1):c.448T>C (p.Cys150Arg) rs1582081682
NM_001374623.1(PNPLA1):c.646T>C (p.Cys216Arg) rs1554138062
NM_001374623.1(PNPLA1):c.92C>A (p.Ala31Asp) rs1231123861
NM_001374623.1(PNPLA1):c.939G>T (p.Glu313Asp) rs1582097565
NM_001374623.1(PNPLA1):c.940_952del (p.Trp314fs) rs1582097559

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