ClinVar Miner

List of variants in gene SERPINA1 studied for Inborn genetic diseases

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.710T= (p.Val237=) rs6647 0.68722
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.31278
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
NM_000295.5(SERPINA1):c.424C>T (p.Leu142=) rs20546 0.03085
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000295.5(SERPINA1):c.522C>T (p.Thr174=) rs72552402 0.00522
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=) rs147283849 0.00064
NM_000295.5(SERPINA1):c.51C>T (p.Cys17=) rs143920236 0.00056
NM_000295.5(SERPINA1):c.924C>T (p.Ala308=) rs138611390 0.00035
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=) rs150784949 0.00026
NM_000295.5(SERPINA1):c.546C>T (p.Asn182=) rs113813309 0.00016
NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=) rs766128806 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_000295.5(SERPINA1):c.899T>G (p.Leu300Arg) rs550592374 0.00009
NM_000295.5(SERPINA1):c.967C>T (p.Leu323=) rs150455534 0.00007
NM_000295.5(SERPINA1):c.819C>T (p.Thr273=) rs2230075 0.00003
NM_000295.5(SERPINA1):c.102G>A (p.Lys34=) rs864622049 0.00001
NM_000295.5(SERPINA1):c.1030G>A (p.Gly344Arg)
NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=) rs201774333
NM_000295.5(SERPINA1):c.1116T>C (p.Ala372=)
NM_000295.5(SERPINA1):c.1119G>A (p.Gly373=) rs376061125
NM_000295.5(SERPINA1):c.1139T>C (p.Ile380Thr)
NM_000295.5(SERPINA1):c.136A>G (p.Thr46Ala)
NM_000295.5(SERPINA1):c.165T>C (p.Ala55=)
NM_000295.5(SERPINA1):c.241A>G (p.Ile81Val)
NM_000295.5(SERPINA1):c.354A>G (p.Glu118=)
NM_000295.5(SERPINA1):c.415G>T (p.Gly139Cys)
NM_000295.5(SERPINA1):c.463T>C (p.Leu155=)
NM_000295.5(SERPINA1):c.528G>A (p.Glu176=)
NM_000295.5(SERPINA1):c.542T>C (p.Ile181Thr)
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=) rs199422210
NM_000295.5(SERPINA1):c.558G>A (p.Glu186=)
NM_000295.5(SERPINA1):c.566C>T (p.Thr189Ile)
NM_000295.5(SERPINA1):c.67C>T (p.Leu23=)
NM_000295.5(SERPINA1):c.876C>T (p.Thr292=)
NM_000295.5(SERPINA1):c.921T>C (p.Ser307=)
NM_000295.5(SERPINA1):c.959C>A (p.Thr320Asn)
NM_000295.5(SERPINA1):c.996C>A (p.Ile332=)
NM_000295.5(SERPINA1):c.997A>T (p.Thr333Ser)

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