ClinVar Miner

List of variants in gene GAA reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00024
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) rs374687883 0.00006
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000152.5(GAA):c.2799+4A>G rs778032599 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106 0.00002
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) rs539841659 0.00002
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962 0.00002
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser) rs892129065 0.00001
NM_000152.5(GAA):c.1585T>G (p.Ser529Ala) rs1598582021 0.00001
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys) rs747373179 0.00001
NM_000152.5(GAA):c.1962_1964del (p.Glu656del) rs1030961946 0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn) rs941181575 0.00001
NM_000152.5(GAA):c.2482-2A>G rs756671283 0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892 0.00001
NM_000152.5(GAA):c.316C>T (p.Arg106Cys) rs915675670 0.00001
NM_000152.5(GAA):c.842G>A (p.Arg281Gln) rs772607616 0.00001
NM_000152.5(GAA):c.952A>T (p.Met318Leu) rs886044506 0.00001
NC_000017.11:g.(?_80107537)_(80113386_?)del
NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC
NM_000152.5(GAA):c.1003G>T (p.Gly335Trp) rs202095215
NM_000152.5(GAA):c.1075+2T>A rs2143853890
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp) rs368244038
NM_000152.5(GAA):c.1114C>T (p.His372Tyr) rs1555600070
NM_000152.5(GAA):c.1123C>A (p.Arg375Ser)
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1195-2A>C rs765360653
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1220A>G (p.Tyr407Cys)
NM_000152.5(GAA):c.1223T>C (p.Met408Thr)
NM_000152.5(GAA):c.1309C>A (p.Arg437Ser)
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) rs1555600235
NM_000152.5(GAA):c.1369C>T (p.Pro457Ser)
NM_000152.5(GAA):c.1376A>T (p.Asp459Val) rs2143866303
NM_000152.5(GAA):c.1396G>T (p.Val466Phe)
NM_000152.5(GAA):c.1400T>C (p.Phe467Ser)
NM_000152.5(GAA):c.1408_1410del (p.Asn470del) rs748893499
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)
NM_000152.5(GAA):c.1456G>T (p.Ala486Ser)
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu) rs2143872219
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser)
NM_000152.5(GAA):c.1565C>T (p.Pro522Leu) rs2143874287
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala) rs794727016
NM_000152.5(GAA):c.1583G>T (p.Gly528Val)
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser) rs2143875175
NM_000152.5(GAA):c.1636+1G>A
NM_000152.5(GAA):c.1646G>A (p.Gly549Glu)
NM_000152.5(GAA):c.1654C>T (p.Leu552Phe)
NM_000152.5(GAA):c.1697C>T (p.Ser566Phe)
NM_000152.5(GAA):c.1709A>G (p.Asn570Ser)
NM_000152.5(GAA):c.1714C>T (p.His572Tyr)
NM_000152.5(GAA):c.1754+1_1754+7del rs2039250790
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.1798C>G (p.Arg600Gly) rs764670084
NM_000152.5(GAA):c.1819G>T (p.Gly607Cys)
NM_000152.5(GAA):c.1846G>T (p.Asp616Tyr)
NM_000152.5(GAA):c.1848C>A (p.Asp616Glu)
NM_000152.5(GAA):c.1855A>G (p.Ser619Gly)
NM_000152.5(GAA):c.1888+1G>A rs776325453
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp) rs2143891559
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp) rs28937909
NM_000152.5(GAA):c.1928G>C (p.Gly643Ala)
NM_000152.5(GAA):c.1940G>A (p.Cys647Tyr)
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe) rs1265892085
NM_000152.5(GAA):c.1942G>T (p.Gly648Cys)
NM_000152.5(GAA):c.1943G>T (p.Gly648Val) rs1448515860
NM_000152.5(GAA):c.1978C>G (p.Arg660Gly)
NM_000152.5(GAA):c.2014C>G (p.Arg672Gly)
NM_000152.5(GAA):c.2131A>C (p.Thr711Pro) rs2143896492
NM_000152.5(GAA):c.2131A>G (p.Thr711Ala) rs2143896492
NM_000152.5(GAA):c.2131A>T (p.Thr711Ser)
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) rs1555601773
NM_000152.5(GAA):c.2174G>T (p.Arg725Leu)
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg) rs1567838823
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp) rs1292367136
NM_000152.5(GAA):c.2296T>C (p.Tyr766His)
NM_000152.5(GAA):c.2332-1G>C rs1555602832
NM_000152.5(GAA):c.2332-2A>G rs112098197
NM_000152.5(GAA):c.2481+1G>A
NM_000152.5(GAA):c.2482-1G>T
NM_000152.5(GAA):c.2563G>C (p.Gly855Arg)
NM_000152.5(GAA):c.2647-2A>G
NM_000152.5(GAA):c.265C>A (p.Arg89Ser)
NM_000152.5(GAA):c.266G>T (p.Arg89Leu)
NM_000152.5(GAA):c.2782T>C (p.Tyr928His) rs2143934702
NM_000152.5(GAA):c.308G>A (p.Cys103Tyr) rs2143827215
NM_000152.5(GAA):c.316C>G (p.Arg106Gly) rs915675670
NM_000152.5(GAA):c.546+2T>C
NM_000152.5(GAA):c.546+2_546+5del rs1181354869
NM_000152.5(GAA):c.569G>T (p.Arg190Leu) rs528367092
NM_000152.5(GAA):c.656G>A (p.Gly219Glu)
NM_000152.5(GAA):c.671G>T (p.Arg224Leu)
NM_000152.5(GAA):c.693-1G>C rs2143845687
NM_000152.5(GAA):c.693-2A>C
NM_000152.5(GAA):c.700A>G (p.Thr234Ala)
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.732G>C (p.Gln244His) rs1178922366
NM_000152.5(GAA):c.797C>T (p.Pro266Leu) rs1567828977
NM_000152.5(GAA):c.858+1G>A
NM_000152.5(GAA):c.859-1G>C
NM_000152.5(GAA):c.859-2A>G rs2143848897
NM_000152.5(GAA):c.874T>C (p.Tyr292His)
NM_000152.5(GAA):c.922C>G (p.His308Asp)
NM_000152.5(GAA):c.925G>T (p.Gly309Trp)
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000152.5(GAA):c.990G>C (p.Trp330Cys)

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