ClinVar Miner

Variants in gene GBE1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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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.-102C>T rs78982329 0.12399
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520 0.01610
NC_000003.12:g.81761728C>T rs13072461 0.00798
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904 0.00592
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_000158.4(GBE1):c.143+11A>C rs145918282 0.00545
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00516
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971 0.00224
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906 0.00062
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511 0.00006
NM_000158.4(GBE1):c.1447-40dup rs11376242

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