ClinVar Miner

Variants in gene PC 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: 13
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HGVS dbSNP gnomAD frequency
NM_001040716.2(PC):c.1608G>A (p.Pro536=) rs139074169 0.00210
NM_001040716.2(PC):c.1344G>A (p.Ala448=) rs148281644 0.00158
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506 0.00126
NM_001040716.2(PC):c.52C>A (p.Arg18=) rs144583275 0.00086
NM_001040716.2(PC):c.2550C>T (p.Cys850=) rs61749179 0.00080
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892 0.00058
NM_001040716.2(PC):c.3258C>G (p.Ser1086=) rs138238125 0.00039
NM_001040716.2(PC):c.2577G>A (p.Ser859=) rs199879375 0.00029
NM_001040716.2(PC):c.1401C>T (p.Asn467=) rs45623237 0.00028
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala) rs199969388 0.00016
NM_001040716.2(PC):c.1167G>A (p.Pro389=) rs556534486 0.00002
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001040716.2(PC):c.2592T>C (p.Asn864=) rs375784582

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