ClinVar Miner

List of variants in gene SERPINA7 reported by OMIM

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe) rs1804495 0.11690
NM_000354.5(SERPINA7):c.571G>A (p.Asp191Asn) rs1050086 0.03388
NM_000354.5(SERPINA7):c.986A>T (p.Tyr329Phe) rs61754490 0.00144
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) rs2234036 0.00076
NM_000354.5(SERPINA7):c.347T>A (p.Ile116Asn) rs28933689 0.00002
NM_000354.6(SERPINA7):c.1114del (p.Leu372fs) rs587776719 0.00002
NM_000354.5(SERPINA7):c.1148C>T (p.Pro383Leu) rs72554658 0.00001
NM_000354.5(SERPINA7):c.899G>A (p.Trp300Ter) rs121909496 0.00001
NM_000354.6(SERPINA7):c.740T>C (p.Leu247Pro) rs28937312 0.00001
GRCh38/hg38 Xq22.2(chrX:106032435-106038727)x2,3
NC_000023.11:g.106033704del rs2147840474
NM_000354.5(SERPINA7):c.1044+5G>A rs587776722
NM_000354.5(SERPINA7):c.1051C>T (p.His351Tyr) rs72554659
NM_000354.5(SERPINA7):c.397G>C (p.Ala133Pro) rs28933688
NM_000354.5(SERPINA7):c.623-2A>G rs587776720
NM_000354.6(SERPINA7):c.1203_1221del (p.Ser402fs) rs765816848
NM_000354.6(SERPINA7):c.174del (p.Val59fs) rs587776721
NM_000354.6(SERPINA7):c.555del (p.Val186fs) rs483352903
NM_000354.6(SERPINA7):c.661del (p.Asp221fs) rs2147841751
NM_000354.6(SERPINA7):c.909del (p.Leu303fs) rs2147841010

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