ClinVar Miner

List of variants in gene CC2D2A reported as 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: 16
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NM_001080522.2(CC2D2A):c.1017+1G>A rs200407856
NM_001080522.2(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121
NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061
NM_001080522.2(CC2D2A):c.3988C>T (p.Arg1330Ter) rs758036385
NM_001080522.2(CC2D2A):c.4084dup (p.Ala1362fs)
NM_001080522.2(CC2D2A):c.4179+1delG rs386833760
NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001080522.2(CC2D2A):c.650del (p.Gly217fs)
NM_001080522.2(CC2D2A):c.964del (p.Val322fs)

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