ClinVar Miner

List of variants in gene GAA reported as benign for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
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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.547-67C>G rs8069491 0.65691
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.1438-108G>A rs12944802 0.65436
NM_000152.5(GAA):c.858+30T>C rs2304845 0.65092
NM_000152.5(GAA):c.1754+144C>T rs2304838 0.60815
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_000152.5(GAA):c.1637-185A>G rs12951255 0.55461
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310 0.23591
NM_000152.5(GAA):c.*223C>T rs8132 0.22255
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396 0.20175
NM_000152.5(GAA):c.*419G>T rs7567 0.19631
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301 0.16610
NM_000152.5(GAA):c.2331+24T>C rs2304831 0.13841
NM_000152.5(GAA):c.*91G>A rs2229221 0.12196
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.2040+66C>T rs2304835 0.06422
NM_000152.5(GAA):c.1754+12G>A rs2304840 0.06396
NM_000152.5(GAA):c.2040+69A>G rs2304834 0.06120
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_000152.5(GAA):c.1754+104C>G rs2304839 0.04194
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_000152.5(GAA):c.2189+95C>T rs72850840 0.04030
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.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.2571G>T (p.Leu857=) rs17853996 0.00319
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.2481+16G>A rs41292408 0.00252
NM_000152.5(GAA):c.2647-8C>T rs139201641 0.00216
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339 0.00193
NM_000152.5(GAA):c.2332-12A>T rs200965268 0.00178
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896 0.00170
NM_000152.5(GAA):c.692+17G>C rs199559553 0.00147
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000152.5(GAA):c.1755-18T>C rs201399518 0.00082
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.2478G>A (p.Leu826=) rs201183207 0.00031
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909 0.00018
NM_000152.5(GAA):c.2799+19G>A rs558187268 0.00016
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.1758G>A (p.Ala586=) rs79795428 0.00010
NM_000152.5(GAA):c.2800-11C>G rs374571499 0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_000152.5(GAA):c.858+24G>C rs770608668 0.00006
NM_000152.5(GAA):c.351G>A (p.Leu117=) rs574947353 0.00003
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000152.5(GAA):c.1194+11del rs2143856264
NM_000152.5(GAA):c.1326+12del
NM_000152.5(GAA):c.1377C>T (p.Asp459=) rs778121058
NM_000152.5(GAA):c.1446C>T (p.Pro482=) rs529513250
NM_000152.5(GAA):c.1551+15del
NM_000152.5(GAA):c.1637-12dup
NM_000152.5(GAA):c.2041-14del
NM_000152.5(GAA):c.2041-14dup
NM_000152.5(GAA):c.2331+48C>A rs2143921034
NM_000152.5(GAA):c.2647-71G>C rs4889821
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247

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