ClinVar Miner

List of variants in gene CPLANE1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 13
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HGVS dbSNP
NM_023073.3(CPLANE1):c.2182C>G (p.Pro728Ala) rs1467926733
NM_023073.3(CPLANE1):c.3626A>C (p.Gln1209Pro) rs762591555
NM_023073.3(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188
NM_023073.3(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199
NM_023073.3(CPLANE1):c.4997A>T (p.Asn1666Ile) rs748543409
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_023073.3(CPLANE1):c.6744A>G (p.Gln2248=) rs142772503
NM_023073.3(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149
NM_023073.3(CPLANE1):c.7957+288G>A rs111294855
NM_023073.3(CPLANE1):c.8512C>T (p.His2838Tyr) rs201404524
NM_023073.3(CPLANE1):c.8628C>T (p.Ser2876=) rs148005445
NM_023073.3(CPLANE1):c.8796+4A>C rs199810663
NM_023073.3(CPLANE1):c.9362C>T (p.Thr3121Met) rs587783354

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