ClinVar Miner

List of variants in gene CPLANE1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192 0.00645
NM_001384732.1(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778 0.00526
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 0.00478
NM_001384732.1(CPLANE1):c.*518T>C rs556117030 0.00315
NM_001384732.1(CPLANE1):c.1173T>G (p.Ala391=) rs61733482 0.00299
NM_001384732.1(CPLANE1):c.7234-7C>G rs141575785 0.00285
NM_001384732.1(CPLANE1):c.8958+4A>C rs199810663 0.00237
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr) rs111294855 0.00212
NM_001384732.1(CPLANE1):c.9093A>G (p.Ser3031=) rs141014620 0.00190
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=) rs148005445 0.00167
NM_001384732.1(CPLANE1):c.1755A>G (p.Ser585=) rs186970259 0.00113
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149 0.00109
NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=) rs34161326 0.00104
NM_001384732.1(CPLANE1):c.994A>G (p.Met332Val) rs369404481 0.00098
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487 0.00087
NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys) rs147588579 0.00048
NM_001384732.1(CPLANE1):c.4954C>T (p.Leu1652=) rs141109938 0.00043
NM_001384732.1(CPLANE1):c.7275G>A (p.Ala2425=) rs137899908 0.00035
NM_001384732.1(CPLANE1):c.7596A>G (p.Leu2532=) rs201502145 0.00029
NM_001384732.1(CPLANE1):c.3447A>G (p.Pro1149=) rs141425550 0.00024
NM_001384732.1(CPLANE1):c.1655C>T (p.Thr552Met) rs77739540 0.00014
NM_001384732.1(CPLANE1):c.8958A>G (p.Pro2986=) rs138495618 0.00012
NM_001384732.1(CPLANE1):c.1872C>T (p.Ser624=) rs886060582 0.00011
NM_001384732.1(CPLANE1):c.4953A>G (p.Val1651=) rs373122844 0.00011
NM_001384732.1(CPLANE1):c.1222C>T (p.Arg408Trp) rs189796608 0.00010
NM_001384732.1(CPLANE1):c.8922G>T (p.Gly2974=) rs370013757 0.00010
NM_001384732.1(CPLANE1):c.4095C>T (p.Phe1365=) rs750696838 0.00004
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala) rs370118778 0.00004
NM_001384732.1(CPLANE1):c.7578C>T (p.Asp2526=) rs561079089 0.00004
NM_001384732.1(CPLANE1):c.7941G>A (p.Ser2647=) rs111859133 0.00004
NM_001384732.1(CPLANE1):c.7035G>A (p.Lys2345=) rs553651222 0.00002
NM_001384732.1(CPLANE1):c.4947A>G (p.Ser1649=) rs554711652 0.00001
NM_001384732.1(CPLANE1):c.1272A>C (p.Arg424=)
NM_001384732.1(CPLANE1):c.1302C>T (p.His434=)
NM_001384732.1(CPLANE1):c.1839A>G (p.Lys613=) rs533310477
NM_001384732.1(CPLANE1):c.2571C>T (p.Ile857=)
NM_001384732.1(CPLANE1):c.4200T>A (p.Thr1400=)
NM_001384732.1(CPLANE1):c.525C>T (p.Thr175=)
NM_001384732.1(CPLANE1):c.5583T>G (p.Thr1861=)
NM_001384732.1(CPLANE1):c.5604A>T (p.Ile1868=)
NM_001384732.1(CPLANE1):c.6219C>T (p.Ser2073=)
NM_001384732.1(CPLANE1):c.6906G>A (p.Thr2302=)
NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu) rs146595129
NM_001384732.1(CPLANE1):c.7938A>T (p.Pro2646=)
NM_001384732.1(CPLANE1):c.8110C>T (p.Gln2704Ter)
NM_001384732.1(CPLANE1):c.8745T>G (p.Val2915=)
NM_001384732.1(CPLANE1):c.915C>A (p.Pro305=)
NM_001384732.1(CPLANE1):c.9282G>A (p.Gly3094=) rs369518590
NM_001384732.1(CPLANE1):c.9414G>A (p.Pro3138=) rs377707922

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