ClinVar Miner

List of variants reported as likely benign for Cole-Carpenter syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
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.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_000918.4(P4HB):c.430G>A (p.Ala144Thr) rs138621837 0.00009

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