List of variants reported as uncertain significance for Aspartylglucosaminuria by Invitae

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 94

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HGVS	dbSNP	gnomAD frequency
NM_000027.4(AGA):c.376C>G (p.Leu126Val)	rs200420067	0.00078
NM_000027.4(AGA):c.792G>A (p.Met264Ile)	rs369967348	0.00034
NM_000027.4(AGA):c.979A>G (p.Ser327Gly)	rs369035792	0.00029
NM_000027.4(AGA):c.806+3A>G	rs368144874	0.00028
NM_000027.4(AGA):c.286A>T (p.Thr96Ser)	rs184672077	0.00019
NM_000027.4(AGA):c.793C>T (p.Arg265Cys)	rs146710132	0.00014
NM_000027.4(AGA):c.523C>T (p.Pro175Ser)	rs367968495	0.00006
NM_000027.4(AGA):c.794G>A (p.Arg265His)	rs375663828	0.00006
NM_000027.4(AGA):c.538G>A (p.Gly180Arg)	rs373865451	0.00004
NM_000027.4(AGA):c.854C>T (p.Ala285Val)	rs763018918	0.00003
NM_000027.4(AGA):c.987G>C (p.Met329Ile)	rs774051527	0.00002
NM_000027.4(AGA):c.1030G>C (p.Asp344His)	rs776865078	0.00001
NM_000027.4(AGA):c.167C>T (p.Ala56Val)	rs758886928	0.00001
NM_000027.4(AGA):c.178G>A (p.Gly60Ser)	rs1489211352	0.00001
NM_000027.4(AGA):c.28C>G (p.Leu10Val)	rs753394137	0.00001
NM_000027.4(AGA):c.362A>G (p.His121Arg)	rs1282622869	0.00001
NM_000027.4(AGA):c.38C>T (p.Pro13Leu)	rs759832068	0.00001
NM_000027.4(AGA):c.390G>C (p.Glu130Asp)	rs770240412	0.00001
NM_000027.4(AGA):c.515T>C (p.Ile172Thr)	rs745924498	0.00001
NM_000027.4(AGA):c.574A>G (p.Ile192Val)	rs189159117	0.00001
NM_000027.4(AGA):c.604C>T (p.Arg202Cys)	rs764539498	0.00001
NM_000027.4(AGA):c.649C>T (p.His217Tyr)	rs763070208	0.00001
NM_000027.4(AGA):c.770C>T (p.Thr257Ile)	rs386833434	0.00001
NM_000027.4(AGA):c.776A>G (p.Asn259Ser)	rs1306999394	0.00001
NM_000027.4(AGA):c.785T>C (p.Ile262Thr)	rs772697272	0.00001
NM_000027.4(AGA):c.824A>G (p.Tyr275Cys)	rs1254844989	0.00001
NM_000027.4(AGA):c.940G>A (p.Gly314Ser)	rs149870867	0.00001
NC_000004.11:g.(?_178352862)_(178363529_?)dup
NC_000004.12:g.(?_177431688)_(177442395_?)dup
NM_000027.4(AGA):c.1000G>A (p.Glu334Lys)
NM_000027.4(AGA):c.1000G>T (p.Glu334Ter)
NM_000027.4(AGA):c.1006A>C (p.Asn336His)	rs151105390
NM_000027.4(AGA):c.1007del (p.Asn336fs)
NM_000027.4(AGA):c.1007dup (p.Asn336fs)
NM_000027.4(AGA):c.104C>T (p.Pro35Leu)
NM_000027.4(AGA):c.127+5G>A	rs1327701669
NM_000027.4(AGA):c.128C>T (p.Ala43Val)
NM_000027.4(AGA):c.14C>T (p.Ser5Leu)
NM_000027.4(AGA):c.197G>C (p.Arg66Thr)
NM_000027.4(AGA):c.230G>A (p.Gly77Glu)
NM_000027.4(AGA):c.238G>C (p.Asp80His)
NM_000027.4(AGA):c.243A>T (p.Glu81Asp)
NM_000027.4(AGA):c.276G>A (p.Met92Ile)
NM_000027.4(AGA):c.279T>A (p.Asp93Glu)
NM_000027.4(AGA):c.280G>C (p.Gly94Arg)
NM_000027.4(AGA):c.281+12_281+13delinsAG
NM_000027.4(AGA):c.290T>C (p.Met97Thr)
NM_000027.4(AGA):c.292G>T (p.Asp98Tyr)
NM_000027.4(AGA):c.308G>A (p.Gly103Glu)	rs1736932419
NM_000027.4(AGA):c.311A>T (p.Asp104Val)
NM_000027.4(AGA):c.312T>G (p.Asp104Glu)
NM_000027.4(AGA):c.338G>A (p.Gly113Asp)
NM_000027.4(AGA):c.340G>A (p.Val114Met)
NM_000027.4(AGA):c.34G>C (p.Val12Leu)	rs74626221
NM_000027.4(AGA):c.394+6T>C
NM_000027.4(AGA):c.428A>G (p.Asn143Ser)
NM_000027.4(AGA):c.454C>A (p.Gln152Lys)
NM_000027.4(AGA):c.46C>T (p.Leu16Phe)
NM_000027.4(AGA):c.481C>T (p.Arg161Trp)
NM_000027.4(AGA):c.530A>G (p.Lys177Arg)	rs1189458949
NM_000027.4(AGA):c.545A>G (p.Tyr182Cys)
NM_000027.4(AGA):c.557G>C (p.Gly186Ala)
NM_000027.4(AGA):c.559A>G (p.Ile187Val)	rs2111015706
NM_000027.4(AGA):c.611A>T (p.His204Leu)
NM_000027.4(AGA):c.620T>C (p.Ile207Thr)
NM_000027.4(AGA):c.623-3T>C
NM_000027.4(AGA):c.693A>G (p.Ile231Met)	rs1579042146
NM_000027.4(AGA):c.700C>T (p.Arg234Cys)
NM_000027.4(AGA):c.701G>A (p.Arg234His)
NM_000027.4(AGA):c.705A>C (p.Val235=)
NM_000027.4(AGA):c.745G>A (p.Asp249Asn)
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)	rs386833433
NM_000027.4(AGA):c.757G>A (p.Ala253Thr)	rs1736735409
NM_000027.4(AGA):c.763G>A (p.Ala255Thr)
NM_000027.4(AGA):c.76C>T (p.Pro26Ser)
NM_000027.4(AGA):c.776A>T (p.Asn259Ile)
NM_000027.4(AGA):c.791T>C (p.Met264Thr)	rs1404090170
NM_000027.4(AGA):c.807-3C>T
NM_000027.4(AGA):c.809A>G (p.Tyr270Cys)
NM_000027.4(AGA):c.833GAG[1] (p.Gly279del)	rs764622951
NM_000027.4(AGA):c.844C>G (p.Pro282Ala)	rs2111006963
NM_000027.4(AGA):c.854C>G (p.Ala285Gly)
NM_000027.4(AGA):c.865G>A (p.Val289Met)
NM_000027.4(AGA):c.874A>G (p.Arg292Gly)
NM_000027.4(AGA):c.900C>A (p.Phe300Leu)	rs2111006859
NM_000027.4(AGA):c.902T>G (p.Phe301Cys)	rs35916166
NM_000027.4(AGA):c.914T>A (p.Ile305Lys)
NM_000027.4(AGA):c.914T>G (p.Ile305Arg)
NM_000027.4(AGA):c.915A>G (p.Ile305Met)
NM_000027.4(AGA):c.923A>G (p.Asn308Ser)
NM_000027.4(AGA):c.935G>A (p.Ser312Asn)
NM_000027.4(AGA):c.938dup (p.Tyr313Ter)
NM_000027.4(AGA):c.939C>T (p.Tyr313=)
NM_000027.4(AGA):c.978T>G (p.Phe326Leu)	rs373878347

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