ClinVar Miner

List of variants in gene CC2D2A reported as likely pathogenic for Meckel syndrome, type 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001080522.2(CC2D2A):c.4384T>C (p.Trp1462Arg) rs368720062
NM_001080522.2(CC2D2A):c.4407C>G (p.Ser1469Arg) rs587779732

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