ClinVar Miner

List of variants in gene SPECC1L, SPECC1L-ADORA2A studied for Opitz G/BBB syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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NM_015330.5(SPECC1L):c.1189A>C (p.Thr397Pro) rs786201030
NM_015330.5(SPECC1L):c.1292T>C (p.Leu431Pro) rs1556226291
NM_015330.5(SPECC1L):c.3247G>A (p.Gly1083Ser) rs786201031

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