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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 196

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HGVS	dbSNP	gnomAD frequency
NM_000169.3(GLA):c.1000-22C>T	rs2071228	0.33579
NM_000169.3(GLA):c.640-16A>G	rs2071397	0.12447
NM_000169.3(GLA):c.-10C>T	rs2071225	0.06441
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)	rs28935490	0.00308
NM_000169.3(GLA):c.978G>A (p.Lys326=)	rs151195362	0.00100
NM_000169.3(GLA):c.8T>C (p.Leu3Pro)	rs150547672	0.00098
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)	rs149391489	0.00043
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.129C>T (p.Gly43=)	rs146177035	0.00018
NM_000169.3(GLA):c.-8C>G	rs371291716	0.00014
NM_000169.3(GLA):c.1088G>A (p.Arg363His)	rs111422676	0.00013
NM_000169.3(GLA):c.48T>G (p.Leu16=)	rs201449986	0.00011
NM_000169.3(GLA):c.945C>T (p.Asp315=)	rs151208856	0.00009
NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn)	rs367658155	0.00006
NM_000169.3(GLA):c.640-801G>A	rs199473684	0.00005
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.593T>C (p.Ile198Thr)	rs727503950	0.00002
NM_000169.3(GLA):c.1025G>A (p.Arg342Gln)	rs28935493	0.00001
NM_000169.3(GLA):c.1050T>C (p.Ala350=)	rs869312210	0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)	rs869312162	0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)	rs797044776	0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)	rs782449839	0.00001
NM_000169.3(GLA):c.1233C>T (p.Gly411=)	rs1555984746	0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	rs28935197	0.00001
NM_000169.3(GLA):c.679C>T (p.Arg227Ter)	rs104894841	0.00001
NM_000169.3(GLA):c.706T>C (p.Trp236Arg)	rs1555985148	0.00001
NM_000169.3(GLA):c.801+14C>T	rs200744672	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
NC_000023.10:g.(100656798_100658798)_(100658974_100662697)dup
NC_000023.11:g.(?_101397790)_(101398947_101400665)del
NM_000169.2(GLA):c.-79G>A	rs1928609406
NM_000169.3(GLA):c.1000-10G>A	rs869312203
NM_000169.3(GLA):c.1000-14dup
NM_000169.3(GLA):c.101A>G (p.Asn34Ser)	rs104894835
NM_000169.3(GLA):c.1020G>A (p.Trp340Ter)	rs104894842
NM_000169.3(GLA):c.1021G>A (p.Glu341Lys)	rs869312214
NM_000169.3(GLA):c.1021G>T (p.Glu341Ter)	rs869312214
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter)	rs104894843
NM_000169.3(GLA):c.1033_1034del (p.Ser345fs)	rs398123198
NM_000169.3(GLA):c.1045T>C (p.Trp349Arg)	rs1928137126
NM_000169.3(GLA):c.1046G>A (p.Trp349Ter)	rs869312218
NM_000169.3(GLA):c.1055_1056del (p.Ala352fs)	rs1555984840
NM_000169.3(GLA):c.1057_1058del (p.Met353fs)	rs886044829
NM_000169.3(GLA):c.1062_1076del (p.Asn355_Ile359del)	rs1569302697
NM_000169.3(GLA):c.1072G>T (p.Glu358Ter)	rs797044774
NM_000169.3(GLA):c.1072_1074del (p.Glu358del)	rs730880453
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg)	rs782598150
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.1117G>A (p.Gly373Ser)	rs727504348
NM_000169.3(GLA):c.1118G>A (p.Gly373Asp)	rs869312227
NM_000169.3(GLA):c.1125_1128dup (p.Ala377fs)	rs1928125824
NM_000169.3(GLA):c.1139del (p.Pro380fs)	rs2147470791
NM_000169.3(GLA):c.1168G>A (p.Val390Met)
NM_000169.3(GLA):c.118C>T (p.Pro40Ser)	rs104894831
NM_000169.3(GLA):c.1192G>T (p.Glu398Ter)	rs104894844
NM_000169.3(GLA):c.119C>T (p.Pro40Leu)	rs398123199
NM_000169.3(GLA):c.1201dup (p.Ser401fs)	rs1928120091
NM_000169.3(GLA):c.1225C>G (p.Pro409Ala)	rs878853698
NM_000169.3(GLA):c.1229C>A (p.Thr410Lys)	rs730880442
NM_000169.3(GLA):c.1235_1236del (p.Thr412fs)	rs797044777
NM_000169.3(GLA):c.1244T>C (p.Leu415Pro)	rs112341092
NM_000169.3(GLA):c.1244T>G (p.Leu415Arg)	rs112341092
NM_000169.3(GLA):c.1285del (p.Leu429fs)	rs1555984717
NM_000169.3(GLA):c.128G>T (p.Gly43Val)	rs1928583820
NM_000169.3(GLA):c.128del (p.Gly43fs)	rs797044500
NM_000169.3(GLA):c.132G>T (p.Trp44Cys)	rs398123202
NM_000169.3(GLA):c.136C>T (p.His46Tyr)	rs1928582757
NM_000169.3(GLA):c.138C>G (p.His46Gln)	rs869312253
NM_000169.3(GLA):c.151A>G (p.Met51Val)
NM_000169.3(GLA):c.153G>A (p.Met51Ile)	rs869312255
NM_000169.3(GLA):c.153G>T (p.Met51Ile)	rs869312255
NM_000169.3(GLA):c.154T>G (p.Cys52Gly)	rs1057521047
NM_000169.3(GLA):c.154dup (p.Cys52fs)
NM_000169.3(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu)	rs1569306036
NM_000169.3(GLA):c.167G>A (p.Cys56Tyr)	rs869312258
NM_000169.3(GLA):c.167G>T (p.Cys56Phe)	rs869312258
NM_000169.3(GLA):c.169C>T (p.Gln57Ter)	rs869312259
NM_000169.3(GLA):c.172del (p.Glu58fs)	rs869312261
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.242G>C (p.Trp81Ser)	rs398123208
NM_000169.3(GLA):c.265C>T (p.Leu89Phe)	rs1555986305
NM_000169.3(GLA):c.266T>G (p.Leu89Arg)	rs1569304886
NM_000169.3(GLA):c.26del (p.His9fs)	rs1555987215
NM_000169.3(GLA):c.273_276dup (p.Asp93Ter)	rs1928406808
NM_000169.3(GLA):c.274G>C (p.Asp92His)	rs886041315
NM_000169.3(GLA):c.274G>T (p.Asp92Tyr)	rs886041315
NM_000169.3(GLA):c.275A>G (p.Asp92Gly)	rs1928406948
NM_000169.3(GLA):c.281G>T (p.Cys94Phe)	rs113173389
NM_000169.3(GLA):c.295C>T (p.Gln99Ter)	rs868937910
NM_000169.3(GLA):c.2T>C (p.Met1Thr)	rs1555987232
NM_000169.3(GLA):c.307G>T (p.Glu103Ter)	rs1569304851
NM_000169.3(GLA):c.334C>T (p.Arg112Cys)	rs104894834
NM_000169.3(GLA):c.337T>C (p.Phe113Leu)	rs869312142
NM_000169.3(GLA):c.350T>G (p.Ile117Ser)	rs12392549
NM_000169.3(GLA):c.355C>T (p.Gln119Ter)	rs2147480438
NM_000169.3(GLA):c.369+1G>A	rs797044669
NM_000169.3(GLA):c.369+5G>T	rs398123209
NM_000169.3(GLA):c.370-2A>C	rs730880444
NM_000169.3(GLA):c.370-532_1278del
NM_000169.3(GLA):c.370G>T (p.Val124Phe)
NM_000169.3(GLA):c.379A>T (p.Lys127Ter)	rs2147477845
NM_000169.3(GLA):c.386T>C (p.Leu129Pro)	rs727503072
NM_000169.3(GLA):c.3G>A (p.Met1Ile)	rs2147487910
NM_000169.3(GLA):c.400T>G (p.Tyr134Asp)	rs727503951
NM_000169.3(GLA):c.402T>G (p.Tyr134Ter)	rs1183869568
NM_000169.3(GLA):c.404C>T (p.Ala135Val)	rs1569304221
NM_000169.3(GLA):c.406G>T (p.Asp136Tyr)	rs1928326804
NM_000169.3(GLA):c.409G>T (p.Val137Phe)	rs1928326653
NM_000169.3(GLA):c.412G>A (p.Gly138Arg)	rs1928326524
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.422C>T (p.Thr141Ile)	rs886044843
NM_000169.3(GLA):c.426C>A (p.Cys142Ter)
NM_000169.3(GLA):c.427G>C (p.Ala143Pro)	rs104894845
NM_000169.3(GLA):c.439G>A (p.Gly147Arg)	rs1555985830
NM_000169.3(GLA):c.444T>G (p.Ser148Arg)	rs1569304190
NM_000169.3(GLA):c.484del (p.Trp162fs)	rs1928321045
NM_000169.3(GLA):c.485G>A (p.Trp162Ter)	rs727504350
NM_000169.3(GLA):c.4C>T (p.Gln2Ter)	rs869312313
NM_000169.3(GLA):c.500T>C (p.Leu167Pro)	rs1928319806
NM_000169.3(GLA):c.547G>A (p.Gly183Ser)	rs869312324
NM_000169.3(GLA):c.550T>G (p.Tyr184Asp)	rs1928287649
NM_000169.3(GLA):c.559_560del (p.Met187fs)	rs1928287177
NM_000169.3(GLA):c.56T>A (p.Leu19Gln)	rs1928592578
NM_000169.3(GLA):c.56T>C (p.Leu19Pro)	rs1928592578
NM_000169.3(GLA):c.591C>T (p.Ser197=)	rs898606246
NM_000169.3(GLA):c.592_603del (p.Ile198_Ser201del)	rs1928284093
NM_000169.3(GLA):c.59_72dup (p.Asp25fs)	rs1555987175
NM_000169.3(GLA):c.604T>C (p.Cys202Arg)	rs1569303843
NM_000169.3(GLA):c.614C>T (p.Pro205Leu)	rs886044879
NM_000169.3(GLA):c.620_630delinsCACT (p.Tyr207fs)	rs1928279286
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.640-1G>A	rs398123216
NM_000169.3(GLA):c.640-336T>C
NM_000169.3(GLA):c.646dup (p.Tyr216fs)	rs1928199153
NM_000169.3(GLA):c.658C>T (p.Arg220Ter)	rs727503949
NM_000169.3(GLA):c.661C>T (p.Gln221Ter)	rs797044747
NM_000169.3(GLA):c.668G>A (p.Cys223Tyr)	rs869312382
NM_000169.3(GLA):c.671A>G (p.Asn224Ser)	rs869312383
NM_000169.3(GLA):c.680G>A (p.Arg227Gln)	rs104894840
NM_000169.3(GLA):c.688G>A (p.Ala230Thr)	rs1928195468
NM_000169.3(GLA):c.713G>A (p.Ser238Asn)	rs730880450
NM_000169.3(GLA):c.718_719del (p.Lys240fs)	rs869312389
NM_000169.3(GLA):c.723dup (p.Ile242fs)	rs869312391
NM_000169.3(GLA):c.72G>C (p.Trp24Cys)	rs869312392
NM_000169.3(GLA):c.734G>A (p.Trp245Ter)	rs398123220
NM_000169.3(GLA):c.748C>T (p.Gln250Ter)	rs398123221
NM_000169.3(GLA):c.751G>T (p.Glu251Ter)	rs1928189534
NM_000169.3(GLA):c.770C>T (p.Ala257Val)	rs1569303218
NM_000169.3(GLA):c.782G>A (p.Gly261Asp)	rs869312401
NM_000169.3(GLA):c.782G>T (p.Gly261Val)	rs869312401
NM_000169.3(GLA):c.790G>T (p.Asp264Tyr)	rs190347120
NM_000169.3(GLA):c.791A>T (p.Asp264Val)	rs28935486
NM_000169.3(GLA):c.797A>T (p.Asp266Val)	rs28935487
NM_000169.3(GLA):c.800T>G (p.Met267Arg)	rs869312408
NM_000169.3(GLA):c.801+1G>C	rs868923658
NM_000169.3(GLA):c.801+3A>G	rs797044748
NM_000169.3(GLA):c.802-2A>T	rs797044499
NM_000169.3(GLA):c.805G>A (p.Val269Met)	rs869312427
NM_000169.3(GLA):c.824_825del (p.Leu275fs)	rs1928173731
NM_000169.3(GLA):c.830G>A (p.Trp277Ter)	rs886044766
NM_000169.3(GLA):c.833dup (p.Asn278fs)	rs1928172876
NM_000169.3(GLA):c.848dup (p.Met284fs)	rs1555985002
NM_000169.3(GLA):c.851T>C (p.Met284Thr)	rs1928171557
NM_000169.3(GLA):c.85dup (p.Ala29fs)	rs1569306181
NM_000169.3(GLA):c.863del (p.Ala288fs)	rs1569303030
NM_000169.3(GLA):c.874G>C (p.Ala292Pro)	rs111812846
NM_000169.3(GLA):c.884T>G (p.Phe295Cys)	rs1928168711
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.894T>A (p.Asn298Lys)	rs869312444
NM_000169.3(GLA):c.899T>C (p.Leu300Pro)	rs398123223
NM_000169.3(GLA):c.901C>G (p.Arg301Gly)	rs398123224
NM_000169.3(GLA):c.901C>T (p.Arg301Ter)	rs398123224
NM_000169.3(GLA):c.902G>A (p.Arg301Gln)	rs104894828
NM_000169.3(GLA):c.902dup (p.His302fs)	rs1928166458
NM_000169.3(GLA):c.913_945dup (p.Pro305_Asp315dup)	rs2147471995
NM_000169.3(GLA):c.92C>T (p.Ala31Val)	rs869312448
NM_000169.3(GLA):c.958A>C (p.Asn320His)	rs1555984950
NM_000169.3(GLA):c.959_962del (p.Asn320fs)	rs398123225
NM_000169.3(GLA):c.961C>G (p.Gln321Glu)	rs730880439
NM_000169.3(GLA):c.962A>G (p.Gln321Arg)	rs1928161905
NM_000169.3(GLA):c.966C>A (p.Asp322Glu)	rs398123226
NM_000169.3(GLA):c.969del (p.Leu324fs)	rs2147471863
NM_000169.3(GLA):c.982G>C (p.Gly328Arg)	rs104894832
NM_000169.3(GLA):c.983G>A (p.Gly328Glu)
NM_000169.3(GLA):c.988del (p.Gln330fs)	rs1928157897
NM_000169.3(GLA):c.994dup (p.Arg332fs)	rs1569302887
NM_000169.3(GLA):c.999+2T>C	rs886044860
NM_001199973.2(RPL36A-HNRNPH2):c.300+3109_300+3112del	rs869312426

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