ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn) rs367658155 0.00006
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln) rs869312163 0.00003
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.801+14C>T rs200744672 0.00001
NC_000023.10:g.(100656798_100658798)_(100658974_100662697)dup
NM_000169.2(GLA):c.-79G>A rs1928609406
NM_000169.3(GLA):c.1000-14dup
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.1116_1117delinsAT (p.Gly373Cys) rs1928127475
NM_000169.3(GLA):c.1244T>G (p.Leu415Arg) rs112341092
NM_000169.3(GLA):c.132G>T (p.Trp44Cys) rs398123202
NM_000169.3(GLA):c.138C>G (p.His46Gln) rs869312253
NM_000169.3(GLA):c.151A>G (p.Met51Val)
NM_000169.3(GLA):c.167G>T (p.Cys56Phe) rs869312258
NM_000169.3(GLA):c.187T>C (p.Cys63Arg) rs1928578294
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.3(GLA):c.369+5G>T rs398123209
NM_000169.3(GLA):c.370G>T (p.Val124Phe)
NM_000169.3(GLA):c.409G>T (p.Val137Phe) rs1928326653
NM_000169.3(GLA):c.56T>A (p.Leu19Gln) rs1928592578
NM_000169.3(GLA):c.592_603del (p.Ile198_Ser201del) rs1928284093
NM_000169.3(GLA):c.604T>C (p.Cys202Arg) rs1569303843
NM_000169.3(GLA):c.639+852_639+855del rs782584102
NM_000169.3(GLA):c.639G>A (p.Lys213=) rs1928277930
NM_000169.3(GLA):c.640-336T>C
NM_000169.3(GLA):c.72G>C (p.Trp24Cys) rs869312392
NM_000169.3(GLA):c.887T>A (p.Met296Lys) rs869312442
NM_000169.3(GLA):c.890C>A (p.Ser297Tyr) rs28935489
NM_000169.3(GLA):c.913_945dup (p.Pro305_Asp315dup) rs2147471995
NM_000169.3(GLA):c.958A>C (p.Asn320His) rs1555984950

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