ClinVar Miner

List of variants in gene GBE1 reported by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000158.4(GBE1):c.-28G>T rs368460254 0.48974
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.143+11A>C rs145918282 0.00545
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.346A>G (p.Lys116Glu) rs377305989 0.00037
NM_000158.4(GBE1):c.278C>T (p.Pro93Leu) rs200746350 0.00017
NM_000158.4(GBE1):c.1529C>T (p.Thr510Ile) rs375013715 0.00013
NM_000158.4(GBE1):c.2036G>A (p.Arg679His) rs758188572 0.00010
NM_000158.4(GBE1):c.584G>A (p.Arg195Gln) rs368555635 0.00010
NM_000158.4(GBE1):c.527T>A (p.Ile176Lys) rs571116428 0.00006
NM_000158.4(GBE1):c.23C>T (p.Ala8Val) rs759518868 0.00004
NM_000158.4(GBE1):c.1286G>C (p.Gly429Ala) rs745594101 0.00003
NM_000158.4(GBE1):c.293T>G (p.Val98Gly) rs775486403 0.00003
NM_000158.4(GBE1):c.1726C>T (p.Arg576Cys) rs183019204 0.00002
NM_000158.4(GBE1):c.1141T>G (p.Phe381Val) rs982989468 0.00001
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593 0.00001
NM_000158.4(GBE1):c.1803+2T>C rs539203557 0.00001
NM_000158.4(GBE1):c.2080A>G (p.Ile694Val) rs1257283055 0.00001
NM_000158.4(GBE1):c.1108+5G>A rs1553684520
NM_000158.4(GBE1):c.1447-40dup rs11376242
NM_000158.4(GBE1):c.1497G>A (p.Met499Ile) rs1475508518
NM_000158.4(GBE1):c.74T>G (p.Val25Gly) rs374678652
NM_000158.4(GBE1):c.802G>C (p.Glu268Gln) rs1704707689
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671

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