ClinVar Miner

List of variants studied for Cole-Carpenter syndrome 2

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_014822.4(SEC24D):c.673+8G>A rs6843524 0.89370
NM_014822.4(SEC24D):c.913+49C>T rs2303513 0.23236
NM_014822.4(SEC24D):c.125T>C (p.Met42Thr) rs10029206 0.01448
NM_014822.4(SEC24D):c.653C>G (p.Ala218Gly) rs35392900 0.00928
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe) rs141180741 0.00908
NM_014822.4(SEC24D):c.2536A>G (p.Met846Val) rs34510328 0.00443
NM_014822.4(SEC24D):c.2959-16G>T rs58916284 0.00425
NM_014822.4(SEC24D):c.1042-6C>G rs117971741 0.00120
NM_014822.4(SEC24D):c.2681C>T (p.Thr894Met) rs149063473 0.00116
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr) rs146773641 0.00071
NM_014822.4(SEC24D):c.1790A>T (p.Asp597Val) rs375796795 0.00019
NM_014822.4(SEC24D):c.938G>A (p.Arg313His) rs148676365 0.00006
NM_014822.4(SEC24D):c.1450C>T (p.Arg484Ter) rs1372766642 0.00001
NM_014822.4(SEC24D):c.2723G>A (p.Cys908Tyr) rs1182434832 0.00001
NM_014822.4(SEC24D):c.2933A>C (p.Gln978Pro) rs786204846 0.00001
NM_014822.4(SEC24D):c.1055T>A (p.Leu352Ter)
NM_014822.4(SEC24D):c.113dup (p.Thr39fs) rs759594785
NM_014822.4(SEC24D):c.1261T>C (p.Ser421Pro)
NM_014822.4(SEC24D):c.1422-9dup rs71595318
NM_014822.4(SEC24D):c.1614-10T>A rs1404593679
NM_014822.4(SEC24D):c.1724G>C (p.Gly575Ala)
NM_014822.4(SEC24D):c.2093-14T>C
NM_014822.4(SEC24D):c.2496G>T (p.Gln832His) rs1578383414
NM_014822.4(SEC24D):c.2842T>C (p.Ser948Pro) rs1175597762
NM_014822.4(SEC24D):c.2959-15dup rs140990828
NM_014822.4(SEC24D):c.3044C>T (p.Ser1015Phe) rs760670617
NM_014822.4(SEC24D):c.483T>G (p.Pro161=) rs2389688
NM_014822.4(SEC24D):c.613C>T (p.Gln205Ter) rs786204845
NM_014822.4(SEC24D):c.719G>A (p.Gly240Glu)
NM_014822.4(SEC24D):c.875C>T (p.Pro292Leu) rs1578456973
NM_014822.4(SEC24D):c.958C>T (p.Pro320Ser)

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