ClinVar Miner

Variants in gene PCLO 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: 25
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HGVS dbSNP gnomAD frequency
NM_033026.6(PCLO):c.943C>G (p.Pro315Ala) rs61744447 0.00649
NM_033026.6(PCLO):c.6174A>G (p.Leu2058=) rs147497968 0.00623
NM_033026.6(PCLO):c.14766C>T (p.Ala4922=) rs146099474 0.00572
NM_033026.6(PCLO):c.3498G>A (p.Thr1166=) rs141881813 0.00281
NM_033026.6(PCLO):c.962A>G (p.His321Arg) rs139392690 0.00223
NM_033026.6(PCLO):c.10767C>G (p.Asp3589Glu) rs149879954 0.00221
NM_033026.6(PCLO):c.686C>T (p.Pro229Leu) rs112144434 0.00220
NM_033026.6(PCLO):c.775C>G (p.Gln259Glu) rs10251512 0.00220
NM_033026.6(PCLO):c.11289C>T (p.Leu3763=) rs62461415 0.00215
NM_033026.6(PCLO):c.2066C>T (p.Ala689Val) rs200359990 0.00214
NM_033026.6(PCLO):c.11172G>A (p.Leu3724=) rs201525533 0.00178
NM_033026.6(PCLO):c.12180G>A (p.Ala4060=) rs188588679 0.00173
NM_033026.6(PCLO):c.7740T>C (p.Tyr2580=) rs368873675 0.00172
NM_033026.6(PCLO):c.5394A>G (p.Gln1798=) rs372909168 0.00075
NM_033026.6(PCLO):c.10668T>A (p.Pro3556=) rs144871999 0.00066
NM_033026.6(PCLO):c.14397C>G (p.Ser4799=) rs370303452 0.00048
NM_033026.6(PCLO):c.5565T>C (p.Ser1855=) rs377317961 0.00009
NM_033026.6(PCLO):c.8662G>A (p.Val2888Ile) rs529385259 0.00006
NM_033026.6(PCLO):c.6487A>T (p.Ile2163Phe) rs570812444 0.00002
NM_033026.6(PCLO):c.13528+8A>G rs560413459 0.00001
NM_033026.6(PCLO):c.1094_1123dup (p.Pro365_Gln374dup) rs71074627
NM_033026.6(PCLO):c.15289-5dup rs779490171
NM_033026.6(PCLO):c.5364G>A (p.Glu1788=)
NM_033026.6(PCLO):c.586G>T (p.Val196Phe) rs143264629
NM_033026.6(PCLO):c.9519T>C (p.Leu3173=) rs117636778

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