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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 105

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HGVS	dbSNP	gnomAD frequency
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)	rs28935490	0.00308
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.1088G>A (p.Arg363His)	rs111422676	0.00013
NM_000169.3(GLA):c.48T>G (p.Leu16=)	rs201449986	0.00011
NM_000169.3(GLA):c.865A>G (p.Ile289Val)	rs140329381	0.00009
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.619T>C (p.Tyr207His)	rs372416832	0.00005
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala)	rs375661583	0.00004
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)	rs869312163	0.00003
NM_000169.3(GLA):c.419A>C (p.Lys140Thr)	rs150228150	0.00003
NM_000169.3(GLA):c.714T>C (p.Ser238=)	rs397515872	0.00003
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)	rs886044779	0.00002
NM_000169.3(GLA):c.1192G>A (p.Glu398Lys)	rs104894844	0.00002
NM_000169.3(GLA):c.122C>G (p.Thr41Ser)	rs782362194	0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)	rs104894833	0.00002
NM_000169.3(GLA):c.320A>G (p.Gln107Arg)	rs727505060	0.00002
NM_000169.3(GLA):c.457G>A (p.Asp153Asn)	rs370299397	0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)	rs727503950	0.00002
NM_000169.3(GLA):c.831G>C (p.Trp277Cys)	rs782196174	0.00002
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)	rs869312162	0.00001
NM_000169.3(GLA):c.1127T>A (p.Val376Glu)	rs1555984793	0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)	rs782449839	0.00001
NM_000169.3(GLA):c.179C>T (p.Pro60Leu)	rs869312262	0.00001
NM_000169.3(GLA):c.208A>G (p.Met70Val)	rs1555986330	0.00001
NM_000169.3(GLA):c.212A>G (p.Glu71Gly)	rs781927744	0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn)	rs782722577	0.00001
NM_000169.3(GLA):c.26A>G (p.His9Arg)	rs1555987214	0.00001
NM_000169.3(GLA):c.361G>A (p.Ala121Thr)	rs782197638	0.00001
NM_000169.3(GLA):c.547+397G>A	rs1220800965	0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala)	rs781871113	0.00001
NM_000169.3(GLA):c.616C>G (p.Leu206Val)	rs730880448	0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val)	rs397515873	0.00001
NM_000169.3(GLA):c.734G>T (p.Trp245Leu)	rs398123220	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.-1A>G	rs1555987235
NM_000169.3(GLA):c.100A>G (p.Asn34Asp)	rs1555987150
NM_000169.3(GLA):c.1046G>C (p.Trp349Ser)	rs869312218
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg)	rs782598150
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu)	rs730880441
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)	rs144994244
NM_000169.3(GLA):c.1102G>C (p.Ala368Pro)	rs144994244
NM_000169.3(GLA):c.1103C>T (p.Ala368Val)
NM_000169.3(GLA):c.112A>G (p.Arg38Gly)	rs730880446
NM_000169.3(GLA):c.1162C>T (p.Leu388Phe)	rs1569302626
NM_000169.3(GLA):c.1247A>C (p.Gln416Pro)	rs398123200
NM_000169.3(GLA):c.1255A>G (p.Asn419Asp)	rs879254061
NM_000169.3(GLA):c.1285del (p.Leu429fs)	rs1555984717
NM_000169.3(GLA):c.132G>C (p.Trp44Cys)	rs398123202
NM_000169.3(GLA):c.132G>T (p.Trp44Cys)	rs398123202
NM_000169.3(GLA):c.141G>C (p.Trp47Cys)	rs1555987101
NM_000169.3(GLA):c.142G>C (p.Glu48Gln)	rs398123204
NM_000169.3(GLA):c.151A>G (p.Met51Val)
NM_000169.3(GLA):c.170A>G (p.Gln57Arg)	rs869312260
NM_000169.3(GLA):c.193A>G (p.Ser65Gly)	rs1569306013
NM_000169.3(GLA):c.195-9C>A	rs1569304947
NM_000169.3(GLA):c.197A>G (p.Glu66Gly)	rs869312264
NM_000169.3(GLA):c.220G>A (p.Glu74Lys)	rs2147480899
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)	rs781838005
NM_000169.3(GLA):c.254G>C (p.Gly85Ala)	rs1569304898
NM_000169.3(GLA):c.254G>T (p.Gly85Val)	rs1569304898
NM_000169.3(GLA):c.265C>T (p.Leu89Phe)	rs1555986305
NM_000169.3(GLA):c.268T>C (p.Cys90Arg)	rs886044767
NM_000169.3(GLA):c.316C>T (p.Leu106Phe)
NM_000169.3(GLA):c.326A>G (p.Asp109Gly)	rs1064794205
NM_000169.3(GLA):c.35G>T (p.Cys12Phe)
NM_000169.3(GLA):c.368A>G (p.Tyr123Cys)
NM_000169.3(GLA):c.369+5G>T	rs398123209
NM_000169.3(GLA):c.370G>T (p.Val124Phe)
NM_000169.3(GLA):c.400T>G (p.Tyr134Asp)	rs727503951
NM_000169.3(GLA):c.409G>T (p.Val137Phe)	rs1928326653
NM_000169.3(GLA):c.443G>T (p.Ser148Ile)	rs1555985829
NM_000169.3(GLA):c.451TAC[1] (p.Tyr152del)	rs2147477618
NM_000169.3(GLA):c.473C>A (p.Thr158Asn)
NM_000169.3(GLA):c.525C>G (p.Asp175Glu)	rs782722844
NM_000169.3(GLA):c.548-3C>A	rs1603041223
NM_000169.3(GLA):c.595G>A (p.Val199Met)	rs398123213
NM_000169.3(GLA):c.596T>G (p.Val199Gly)	rs781871113
NM_000169.3(GLA):c.639+4A>T	rs398123215
NM_000169.3(GLA):c.640-814T>C	rs1603040008
NM_000169.3(GLA):c.664_672del (p.Tyr222_Asn224del)	rs886044902
NM_000169.3(GLA):c.682A>C (p.Asn228His)
NM_000169.3(GLA):c.694A>G (p.Ile232Val)
NM_000169.3(GLA):c.695T>G (p.Ile232Ser)	rs797044749
NM_000169.3(GLA):c.700G>A (p.Asp234Asn)	rs1057524557
NM_000169.3(GLA):c.701A>T (p.Asp234Val)	rs1569303289
NM_000169.3(GLA):c.70T>A (p.Trp24Arg)	rs397515871
NM_000169.3(GLA):c.781G>A (p.Gly261Ser)	rs886044878
NM_000169.3(GLA):c.806T>A (p.Val269Glu)	rs28935488
NM_000169.3(GLA):c.808A>T (p.Ile270Phe)	rs1569303099
NM_000169.3(GLA):c.820G>C (p.Gly274Arg)	rs2147472458
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla)	rs1555985004
NM_000169.3(GLA):c.851T>A (p.Met284Lys)
NM_000169.3(GLA):c.85G>T (p.Ala29Ser)	rs142449183
NM_000169.3(GLA):c.868A>G (p.Met290Val)	rs375538532
NM_000169.3(GLA):c.890C>G (p.Ser297Cys)	rs28935489
NM_000169.3(GLA):c.926C>T (p.Ala309Val)	rs869312155
NM_000169.3(GLA):c.92C>G (p.Ala31Gly)	rs869312448
NM_000169.3(GLA):c.958A>C (p.Asn320His)	rs1555984950
NM_000169.3(GLA):c.967C>A (p.Pro323Thr)	rs147737890
NM_000169.3(GLA):c.97G>A (p.Asp33Asn)	rs2147487414
NM_000169.3(GLA):c.994_995delinsGA (p.Arg332Glu)	rs1057518537
NM_001199973.2(RPL36A-HNRNPH2):c.300+2345_300+2356del

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