ClinVar Miner

List of variants in gene CPLANE1 reported as uncertain significance by GeneDx

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Total variants: 30
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HGVS dbSNP
NM_023073.3(CPLANE1):c.1055C>A (p.Thr352Lys) rs1443893630
NM_023073.3(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282
NM_023073.3(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782
NM_023073.3(CPLANE1):c.1465G>T (p.Val489Phe) rs372187548
NM_023073.3(CPLANE1):c.1507G>A (p.Ala503Thr) rs1064796585
NM_023073.3(CPLANE1):c.1655C>T (p.Thr552Met) rs77739540
NM_023073.3(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477
NM_023073.3(CPLANE1):c.2138C>T (p.Ser713Leu) rs765005739
NM_023073.3(CPLANE1):c.2318A>G (p.Tyr773Cys) rs1057521766
NM_023073.3(CPLANE1):c.2339A>G (p.Gln780Arg) rs1289028361
NM_023073.3(CPLANE1):c.2763_2764inv (p.His921_Phe922delinsGlnIle) rs1554100282
NM_023073.3(CPLANE1):c.3665T>C (p.Met1222Thr) rs768751619
NM_023073.3(CPLANE1):c.3685G>C (p.Gly1229Arg) rs1057522278
NM_023073.3(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199
NM_023073.3(CPLANE1):c.4634G>A (p.Arg1545His) rs765457523
NM_023073.3(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724
NM_023073.3(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778
NM_023073.3(CPLANE1):c.5593A>C (p.Asn1865His) rs199524299
NM_023073.3(CPLANE1):c.5651A>C (p.Lys1884Thr) rs373865796
NM_023073.3(CPLANE1):c.6158T>A (p.Phe2053Tyr) rs189493985
NM_023073.3(CPLANE1):c.6583A>G (p.Thr2195Ala) rs374876051
NM_023073.3(CPLANE1):c.6989A>G (p.Gln2330Arg) rs886041152
NM_023073.3(CPLANE1):c.7054T>C (p.Ser2352Pro) rs774239772
NM_023073.3(CPLANE1):c.7159A>G (p.Ile2387Val) rs1351045535
NM_023073.3(CPLANE1):c.7298T>C (p.Leu2433Pro) rs372655878
NM_023073.3(CPLANE1):c.81+5G>T rs1057523306
NM_023073.3(CPLANE1):c.8300-1G>C rs151279194
NM_023073.3(CPLANE1):c.8516C>T (p.Pro2839Leu) rs147426388
NM_023073.3(CPLANE1):c.8854A>G (p.Arg2952Gly) rs116198390
NM_023073.3(CPLANE1):c.9292G>A (p.Gly3098Arg) rs144081297

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