ClinVar Miner

List of variants in gene GAA reported as uncertain significance by Counsyl

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Gene type:
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn) rs758390382 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000152.5(GAA):c.2799+4A>G rs778032599 0.00003
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000152.5(GAA):c.1324G>A (p.Val442Met) rs377559348 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 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.2284G>A (p.Glu762Lys) rs760063214 0.00001
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1129G>A (p.Gly377Ser) rs752002666
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1242_1244del (p.Phe414_Thr415delinsLeu) rs1555600194
NM_000152.5(GAA):c.1280T>C (p.Met427Thr) rs1555600212
NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup) rs1555600488
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu) rs763772240
NM_000152.5(GAA):c.1819_1836dup (p.Gly607_His612dup) rs1555601409
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg) rs1484576607
NM_000152.5(GAA):c.2053_2070del (p.Tyr685_Pro690del) rs1555601721
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg) rs1555602703
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys) rs1057524664
NM_000152.5(GAA):c.2482-5T>C rs1290870969
NM_000152.5(GAA):c.2584G>A (p.Gly862Arg) rs1555603113
NM_000152.5(GAA):c.2647-20T>G rs1555603208
NM_000152.5(GAA):c.2647-23del rs749000061
NM_000152.5(GAA):c.2744A>C (p.Gln915Pro) rs1555603272
NM_000152.5(GAA):c.2746G>T (p.Val916Phe) rs1221948995
NM_000152.5(GAA):c.2757del (p.Asn919fs) rs1555603283
NM_000152.5(GAA):c.2811_2819del (p.Ile937_Ser940delinsMet) rs1555603411
NM_000152.5(GAA):c.2853G>A (p.Trp951Ter) rs1555603436
NM_000152.5(GAA):c.2858A>G (p.Ter953Trp) rs958648168
NM_000152.5(GAA):c.2859G>T (p.Ter953Tyr) rs1334316018
NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3]) rs1555598846
NM_000152.5(GAA):c.421C>A (p.Leu141Met) rs1379595858
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) rs1555598888
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.632_643del (p.Val211_Ser214del) rs1555599099
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936

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