ClinVar Miner

List of variants in gene B9D2 studied for Joubert syndrome 1

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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NM_030578.4(B9D2):c.107T>C (p.Leu36Pro) rs757863670
NM_030578.4(B9D2):c.150G>C (p.Gln50His) rs747988749
NM_030578.4(B9D2):c.156_163del (p.Asp53fs) rs786204189
NM_030578.4(B9D2):c.163_164delinsAA (p.Ala55Asn) rs1555756363
NM_030578.4(B9D2):c.183C>T (p.Ile61=) rs140901774
NM_030578.4(B9D2):c.195C>T (p.Phe65=) rs34088631
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser) rs863225150
NM_030578.4(B9D2):c.238G>A (p.Val80Met)
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714
NM_030578.4(B9D2):c.346C>T (p.Leu116=) rs1555755825
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser) rs750436680
NM_030578.4(B9D2):c.495C>T (p.Leu165=) rs542445852
NM_030578.4(B9D2):c.513C>T (p.Tyr171=) rs143680317
NM_030578.4(B9D2):c.88+6C>T rs112498529

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