List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as uncertain significance by Color Diagnostics, LLC DBA Color Health

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: 62

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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.865A>G (p.Ile289Val)	rs140329381	0.00009
NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn)	rs367658155	0.00006
NM_000169.3(GLA):c.353G>A (p.Arg118His)	rs143768851	0.00005
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.566T>G (p.Leu189Trp)	rs1555985577	0.00003
NM_000169.3(GLA):c.601T>G (p.Ser201Ala)	rs782164447	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.320A>G (p.Gln107Arg)	rs727505060	0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)	rs727503950	0.00002
NM_000169.3(GLA):c.991C>T (p.Leu331Phe)	rs730880437	0.00002
NM_000169.3(GLA):c.-7C>T	rs782637185	0.00001
NM_000169.3(GLA):c.1016T>C (p.Val339Ala)	rs869312211	0.00001
NM_000169.3(GLA):c.1028C>T (p.Pro343Leu)	rs1555984858	0.00001
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.13A>G (p.Asn5Asp)	rs782442966	0.00001
NM_000169.3(GLA):c.208A>G (p.Met70Val)	rs1555986330	0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn)	rs782722577	0.00001
NM_000169.3(GLA):c.32G>T (p.Gly11Val)	rs782498765	0.00001
NM_000169.3(GLA):c.43G>A (p.Ala15Thr)	rs869312303	0.00001
NM_000169.3(GLA):c.544G>A (p.Asp182Asn)	rs1555985794	0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val)	rs397515873	0.00001
NM_000169.3(GLA):c.73G>A (p.Asp25Asn)	rs781788693	0.00001
NM_000169.3(GLA):c.914C>T (p.Pro305Leu)	rs1465021475	0.00001
NM_000169.3(GLA):c.-2C>T	rs1928603344
NM_000169.3(GLA):c.1093T>G (p.Tyr365Asp)	rs367658155
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.1109C>T (p.Ala370Val)	rs2147470905
NM_000169.3(GLA):c.1135A>C (p.Asn379His)	rs1928125044
NM_000169.3(GLA):c.1265A>T (p.Gln422Leu)	rs1928113901
NM_000169.3(GLA):c.1277_1278del (p.Lys426fs)	rs869312249
NM_000169.3(GLA):c.181G>A (p.Asp61Asn)	rs1928578650
NM_000169.3(GLA):c.209T>C (p.Met70Thr)
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)	rs781838005
NM_000169.3(GLA):c.259G>A (p.Glu87Lys)	rs986730205
NM_000169.3(GLA):c.29T>C (p.Leu10Pro)
NM_000169.3(GLA):c.37G>A (p.Ala13Thr)	rs2147487725
NM_000169.3(GLA):c.427G>T (p.Ala143Ser)	rs104894845
NM_000169.3(GLA):c.475T>C (p.Phe159Leu)	rs1928321516
NM_000169.3(GLA):c.475T>G (p.Phe159Val)	rs1928321516
NM_000169.3(GLA):c.525C>A (p.Asp175Glu)	rs782722844
NM_000169.3(GLA):c.525C>G (p.Asp175Glu)	rs782722844
NM_000169.3(GLA):c.526A>G (p.Ser176Gly)	rs1928317749
NM_000169.3(GLA):c.5A>G (p.Gln2Arg)
NM_000169.3(GLA):c.616C>T (p.Leu206Phe)	rs730880448
NM_000169.3(GLA):c.624G>T (p.Met208Ile)	rs1928280306
NM_000169.3(GLA):c.659G>A (p.Arg220Gln)	rs869312378
NM_000169.3(GLA):c.673C>T (p.His225Tyr)	rs1928196686
NM_000169.3(GLA):c.721A>G (p.Ser241Gly)	rs730880438
NM_000169.3(GLA):c.802-10T>G	rs1928176118
NM_000169.3(GLA):c.85G>T (p.Ala29Ser)	rs142449183
NM_000169.3(GLA):c.911G>C (p.Ser304Thr)	rs1269629205
NM_000169.3(GLA):c.968C>G (p.Pro323Arg)	rs869312159
NM_000169.3(GLA):c.970T>G (p.Leu324Val)
NM_000169.3(GLA):c.994_995delinsGA (p.Arg332Glu)	rs1057518537

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