ClinVar Miner

List of variants in gene GAA reported as benign for not specified

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.2331+20G>A rs2304832 0.80041
NM_000152.5(GAA):c.2040+20A>G rs2304836 0.72004
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_000152.5(GAA):c.1551+49C>A rs2304843 0.66585
NM_000152.5(GAA):c.547-39T>G rs12452721 0.65696
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.1438-19G>C rs2304844 0.65495
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000152.5(GAA):c.858+30T>C rs2304845 0.65092
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310 0.23591
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396 0.20175
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301 0.16610
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303 0.11304
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305 0.10079
NM_000152.5(GAA):c.693-49C>T rs78855075 0.09045
NM_000152.5(GAA):c.1754+12G>A rs2304840 0.06396
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314 0.05752
NM_000152.5(GAA):c.1636+43G>T rs2304842 0.05728
NM_000152.5(GAA):c.*3G>A rs1800317 0.05534
NM_000152.5(GAA):c.1888+21G>A rs2304837 0.05276
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04402
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_000152.5(GAA):c.1551+42G>A rs115427918 0.00904
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_000152.5(GAA):c.546+18G>A rs190153982 0.00474
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_000152.5(GAA):c.2646+39G>A rs41292410 0.00350
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_000152.5(GAA):c.2647-8C>T rs139201641 0.00216
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896 0.00170
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232 0.00057
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909 0.00018
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324 0.00015
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) rs138034915 0.00015
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000152.5(GAA):c.-2C>T rs560511228 0.00002
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000152.5(GAA):c.858+6GCGGCGG[3] rs1555599723
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247

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