ClinVar Miner

List of variants in gene GBE1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_000158.4(GBE1):c.143+10G>T rs9820490 0.12510
NM_000158.4(GBE1):c.579G>A (p.Lys193=) rs17019144 0.09257
NM_000158.4(GBE1):c.342C>T (p.Tyr114=) rs13320194 0.08854
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala) rs2228389 0.06703
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520 0.01610
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904 0.00604
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_000158.4(GBE1):c.429+35T>C rs151091415 0.00389
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971 0.00237
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114 0.00125
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr) rs192877602 0.00116
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro) rs186942296 0.00063
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906 0.00062
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser) rs185631651 0.00054
NM_000158.4(GBE1):c.990C>T (p.Ser330=) rs371194644 0.00027
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587 0.00019
NM_000158.4(GBE1):c.429+5T>G rs373240805 0.00014
NM_000158.4(GBE1):c.993-19T>C rs374576644 0.00012
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000158.4(GBE1):c.143+6G>A rs371048718 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000158.4(GBE1):c.556-6C>T rs754051144 0.00002
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg) rs771405370 0.00001
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter) rs781198373 0.00001
NM_000158.4(GBE1):c.1581G>A (p.Thr527=) rs140571802 0.00001
NM_000158.4(GBE1):c.1619-16G>A rs546023161 0.00001
NM_000158.4(GBE1):c.327A>G (p.Pro109=) rs1200105843 0.00001
NM_000158.4(GBE1):c.709T>C (p.Leu237=) rs886038263 0.00001
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575 0.00001
NM_000158.4(GBE1):c.-9C>A
NM_000158.4(GBE1):c.1336-11C>A
NM_000158.4(GBE1):c.1432G>T (p.Glu478Ter)
NM_000158.4(GBE1):c.1842T>C (p.Ile614=) rs774354874
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATTACAGGT
NM_000158.4(GBE1):c.2053-3364G>A
NM_000158.4(GBE1):c.216del (p.Tyr73fs) rs2107168870
NM_000158.4(GBE1):c.333G>A (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.505del (p.Asp169fs) rs1370223073
NM_000158.4(GBE1):c.649A>G (p.Lys217Glu)

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