ClinVar Miner

Variants in gene G6PC1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628 0.02402
NM_000151.4(G6PC1):c.-77G>A rs145752565 0.00919
NM_000151.4(G6PC1):c.340+42C>T rs116797100 0.00549
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser) rs201961848 0.00176
NM_000151.4(G6PC1):c.340+10C>A rs368450665 0.00124
NM_000151.4(G6PC1):c.*3G>A rs191399793 0.00088
NM_000151.4(G6PC1):c.562+10G>A rs199505156 0.00087
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999 0.00014
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197 0.00004
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=) rs776022311 0.00002
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795 0.00001

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