ClinVar Miner

List of variants reported as uncertain significance for Meckel syndrome, type 6

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617
NM_001080522.2(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001080522.2(CC2D2A):c.2323G>A (p.Glu775Lys) rs751808973
NM_001080522.2(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366
NM_001080522.2(CC2D2A):c.2624C>T (p.Ser875Leu) rs200904521
NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641
NM_001080522.2(CC2D2A):c.2945G>A (p.Arg982His) rs150093365
NM_001080522.2(CC2D2A):c.3135G>A (p.Val1045=) rs371608031
NM_001080522.2(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842
NM_001080522.2(CC2D2A):c.3841T>C (p.Phe1281Leu) rs1560192615
NM_001080522.2(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832
NM_001080522.2(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078

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