List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as uncertain significance by GeneDx

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: 32

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HGVS	dbSNP	gnomAD frequency
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.419A>C (p.Lys140Thr)	rs150228150	0.00003
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)	rs886044779	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.1055C>G (p.Ala352Gly)	rs869312162	0.00001
NM_000169.3(GLA):c.1127T>A (p.Val376Glu)	rs1555984793	0.00001
NM_000169.3(GLA):c.361G>A (p.Ala121Thr)	rs782197638	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.870G>C (p.Met290Ile)	rs869312438	0.00001
NM_000169.3(GLA):c.-1A>G	rs1555987235
NM_000169.3(GLA):c.112A>G (p.Arg38Gly)	rs730880446
NM_000169.3(GLA):c.1255A>G (p.Asn419Asp)	rs879254061
NM_000169.3(GLA):c.1285del (p.Leu429fs)	rs1555984717
NM_000169.3(GLA):c.170A>G (p.Gln57Arg)	rs869312260
NM_000169.3(GLA):c.220G>A (p.Glu74Lys)	rs2147480899
NM_000169.3(GLA):c.326A>G (p.Asp109Gly)	rs1064794205
NM_000169.3(GLA):c.35G>T (p.Cys12Phe)
NM_000169.3(GLA):c.451TAC[1] (p.Tyr152del)	rs2147477618
NM_000169.3(GLA):c.548-3C>A	rs1603041223
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.85G>T (p.Ala29Ser)	rs142449183
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.967C>A (p.Pro323Thr)	rs147737890
NM_000169.3(GLA):c.994_995delinsGA (p.Arg332Glu)	rs1057518537

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