ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as likely pathogenic for not provided

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Total variants: 82
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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.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000169.3(GLA):c.1028C>T (p.Pro343Leu) rs1555984858 0.00001
NM_000169.3(GLA):c.124A>C (p.Met42Leu) rs797044613 0.00001
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile) rs869312438 0.00001
NM_000169.3(GLA):c.1018T>C (p.Trp340Arg) rs1555984869
NM_000169.3(GLA):c.1019_1020insA (p.Trp340Ter) rs398123197
NM_000169.3(GLA):c.1024C>G (p.Arg342Gly) rs104894843
NM_000169.3(GLA):c.1048G>A (p.Ala350Thr) rs1555984843
NM_000169.3(GLA):c.1068dup (p.Gln357fs) rs2147471075
NM_000169.3(GLA):c.1072_1074del (p.Glu358del) rs730880453
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.3(GLA):c.109G>A (p.Ala37Thr) rs869312226
NM_000169.3(GLA):c.109G>C (p.Ala37Pro) rs869312226
NM_000169.3(GLA):c.1116_1117delinsAT (p.Gly373Cys) rs1928127475
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.1125_1140del (p.Val376fs) rs876661347
NM_000169.3(GLA):c.1156C>T (p.Gln386Ter) rs869312233
NM_000169.3(GLA):c.1166C>T (p.Pro389Leu)
NM_000169.3(GLA):c.119C>G (p.Pro40Arg) rs398123199
NM_000169.3(GLA):c.1202C>G (p.Ser401Ter)
NM_000169.3(GLA):c.1209AAG[1] (p.Arg404del) rs869312241
NM_000169.3(GLA):c.1225C>T (p.Pro409Ser) rs878853698
NM_000169.3(GLA):c.1235C>T (p.Thr412Ile) rs2147470514
NM_000169.3(GLA):c.1241T>C (p.Leu414Ser) rs869312246
NM_000169.3(GLA):c.127G>A (p.Gly43Ser) rs886044906
NM_000169.3(GLA):c.137A>C (p.His46Pro)
NM_000169.3(GLA):c.137A>G (p.His46Arg) rs398123203
NM_000169.3(GLA):c.145C>A (p.Arg49Ser)
NM_000169.3(GLA):c.146G>C (p.Arg49Pro) rs398123205
NM_000169.3(GLA):c.151A>C (p.Met51Leu) rs1569306069
NM_000169.3(GLA):c.154dup (p.Cys52fs)
NM_000169.3(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu) rs1569306036
NM_000169.3(GLA):c.224_228delinsCA (p.Leu75_Met76delinsPro) rs2147480882
NM_000169.3(GLA):c.227T>C (p.Met76Thr)
NM_000169.3(GLA):c.254G>A (p.Gly85Asp) rs1569304898
NM_000169.3(GLA):c.254G>T (p.Gly85Val) rs1569304898
NM_000169.3(GLA):c.267_268dup (p.Cys90fs)
NM_000169.3(GLA):c.335G>T (p.Arg112Leu) rs372966991
NM_000169.3(GLA):c.394G>A (p.Gly132Arg) rs1555985855
NM_000169.3(GLA):c.398_413delinsCTGC (p.Ile133_Gly138delinsThrAla) rs1569304218
NM_000169.3(GLA):c.413G>A (p.Gly138Glu) rs1928326107
NM_000169.3(GLA):c.41T>C (p.Leu14Pro) rs730880455
NM_000169.3(GLA):c.511G>A (p.Gly171Ser) rs869312317
NM_000169.3(GLA):c.548G>A (p.Gly183Asp) rs398123212
NM_000169.3(GLA):c.548delG (p.Gly183fs) rs2147476203
NM_000169.3(GLA):c.559A>G (p.Met187Val) rs869312340
NM_000169.3(GLA):c.581C>T (p.Thr194Ile)
NM_000169.3(GLA):c.602C>T (p.Ser201Phe)
NM_000169.3(GLA):c.607G>A (p.Glu203Lys) rs869312345
NM_000169.3(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.3(GLA):c.613C>G (p.Pro205Ala)
NM_000169.3(GLA):c.613_621del (p.Pro205_Tyr207del) rs1569303815
NM_000169.3(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.3(GLA):c.620A>C (p.Tyr207Ser) rs797044727
NM_000169.3(GLA):c.668G>A (p.Cys223Tyr) rs869312382
NM_000169.3(GLA):c.671A>C (p.Asn224Thr) rs869312383
NM_000169.3(GLA):c.674A>G (p.His225Arg) rs2147473301
NM_000169.3(GLA):c.675C>A (p.His225Gln) rs1928196520
NM_000169.3(GLA):c.676T>A (p.Trp226Arg) rs1928196393
NM_000169.3(GLA):c.692A>C (p.Asp231Ala) rs1569303295
NM_000169.3(GLA):c.708G>T (p.Trp236Cys) rs869312386
NM_000169.3(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.793C>T (p.Pro265Ser) rs869312406
NM_000169.3(GLA):c.823C>T (p.Leu275Phe) rs398123222
NM_000169.3(GLA):c.835C>G (p.Gln279Glu) rs28935485
NM_000169.3(GLA):c.865A>T (p.Ile289Phe) rs140329381
NM_000169.3(GLA):c.877C>T (p.Pro293Ser) rs869312440
NM_000169.3(GLA):c.887T>C (p.Met296Thr) rs869312442
NM_000169.3(GLA):c.893A>G (p.Asn298Ser) rs1569302985
NM_000169.3(GLA):c.896A>G (p.Asp299Gly) rs1569302982
NM_000169.3(GLA):c.898C>T (p.Leu300Phe) rs2147472132
NM_000169.3(GLA):c.956T>C (p.Ile319Thr) rs2147471929
NM_000169.3(GLA):c.95T>C (p.Leu32Pro) rs1569306168
NM_000169.3(GLA):c.969del (p.Leu324fs) rs2147471863
NM_000169.3(GLA):c.973G>A (p.Gly325Ser) rs398123227
NM_000169.3(GLA):c.983G>T (p.Gly328Val) rs28935492
NM_000169.3(GLA):c.[351T>G;361G>C]

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