ClinVar Miner

List of variants in gene B9D1 studied for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_015681.5(B9D1):c.109G>A (p.Gly37Ser) rs771997194
NM_015681.5(B9D1):c.151T>C (p.Ser51Pro)
NM_015681.5(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_015681.5(B9D1):c.303A>T (p.Arg101=) rs1555607998
NM_015681.5(B9D1):c.33C>T (p.Leu11=) rs751480715
NM_015681.5(B9D1):c.341+2T>C rs143149764
NM_015681.5(B9D1):c.434C>T (p.Thr145Ile) rs765607415
NM_015681.5(B9D1):c.466C>T (p.Arg156Trp) rs369488112
NM_015681.5(B9D1):c.95A>G (p.Tyr32Cys) rs771170000

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