ClinVar Miner

List of variants in gene PCLO reported as uncertain significance for central nervous system malformation

Included ClinVar conditions (164):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_033026.6(PCLO):c.1297G>A (p.Ala433Thr) rs201344475 0.00180
NM_033026.6(PCLO):c.9373G>A (p.Asp3125Asn) rs145077014 0.00140
NM_033026.6(PCLO):c.8069G>A (p.Gly2690Asp) rs184748520 0.00133
NM_033026.6(PCLO):c.5267G>A (p.Arg1756His) rs139451754 0.00096
NM_033026.6(PCLO):c.13571C>T (p.Pro4524Leu) rs181317757 0.00076
NM_033026.6(PCLO):c.7571A>T (p.Gln2524Leu) rs201409874 0.00052
NM_033026.6(PCLO):c.311G>A (p.Arg104His) rs201699382 0.00045
NM_033026.6(PCLO):c.1771C>T (p.Leu591Phe) rs185699361 0.00033
NM_033026.6(PCLO):c.6167G>A (p.Arg2056Lys) rs189561105 0.00029
NM_033026.6(PCLO):c.9008G>T (p.Gly3003Val) rs201925292 0.00011
NM_033026.6(PCLO):c.12814C>T (p.Arg4272Cys) rs373739483 0.00009
NM_033026.6(PCLO):c.11945G>A (p.Arg3982His) rs371334306 0.00005
NM_033026.6(PCLO):c.3367C>T (p.Arg1123Cys) rs562725219 0.00005
NM_033026.6(PCLO):c.12572A>G (p.His4191Arg) rs369940919 0.00004
NM_033026.6(PCLO):c.1585C>A (p.Pro529Thr) rs895119524 0.00004
NM_033026.6(PCLO):c.5222G>C (p.Ser1741Thr) rs544116999 0.00004
NM_033026.6(PCLO):c.4697A>G (p.Asp1566Gly) rs748686744 0.00002
NM_033026.6(PCLO):c.6916A>G (p.Lys2306Glu) rs747750190 0.00002
NM_033026.6(PCLO):c.10780A>G (p.Thr3594Ala) rs1479830877 0.00001
NM_033026.6(PCLO):c.11671T>C (p.Ser3891Pro) rs761884390 0.00001
NM_033026.6(PCLO):c.13247G>A (p.Arg4416His) rs574707412 0.00001
NM_033026.6(PCLO):c.3562A>G (p.Met1188Val) rs748025637 0.00001
NM_033026.6(PCLO):c.7664C>T (p.Pro2555Leu) rs749947727 0.00001
NM_033026.6(PCLO):c.9494T>C (p.Leu3165Ser) rs371068804 0.00001
NM_033026.6(PCLO):c.10918T>C (p.Phe3640Leu) rs1795285617
NM_033026.6(PCLO):c.11578C>T (p.Pro3860Ser) rs1794464164
NM_033026.6(PCLO):c.12628A>G (p.Arg4210Gly)
NM_033026.6(PCLO):c.12746T>C (p.Ile4249Thr)
NM_033026.6(PCLO):c.14792-2882_15007+2592dup
NM_033026.6(PCLO):c.1656G>T (p.Gln552His)
NM_033026.6(PCLO):c.1753C>T (p.Pro585Ser) rs2116685195
NM_033026.6(PCLO):c.2576A>G (p.Gln859Arg) rs1791681904
NM_033026.6(PCLO):c.4849A>G (p.Thr1617Ala)
NM_033026.6(PCLO):c.4892A>T (p.Asp1631Val) rs1795508585
NM_033026.6(PCLO):c.5147G>T (p.Gly1716Val)
NM_033026.6(PCLO):c.6532C>T (p.Pro2178Ser) rs201432429
NM_033026.6(PCLO):c.6533C>A (p.Pro2178His) rs764859401
NM_033026.6(PCLO):c.7375G>T (p.Val2459Phe) rs1795419455
NM_033026.6(PCLO):c.824_826del (p.Gln275del) rs565675570
NM_033026.6(PCLO):c.863T>G (p.Ile288Arg) rs1237855795

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