ClinVar Miner

Variants in gene PYGL 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: 8
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135 0.01732
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
NM_002863.5(PYGL):c.962G>A (p.Arg321His) rs116465563 0.00878
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902 0.00507
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_002863.5(PYGL):c.424+6T>A rs146741789 0.00346
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) rs145471351 0.00262
NM_002863.5(PYGL):c.2178-33dup rs11414268

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