ClinVar Miner

List of variants in gene combination SPECC1L, SPECC1L-ADORA2A reported as uncertain significance for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015330.6(SPECC1L):c.2486G>A (p.Arg829Lys) rs2041009697 0.00001
NM_015330.6(SPECC1L):c.1967A>C (p.Glu656Ala) rs139099983
NM_015330.6(SPECC1L):c.2067_2071delinsTTGAAC (p.Ile690_Phe691delinsTer) rs2040777042
NM_015330.6(SPECC1L):c.2473del (p.Met825fs) rs2146521275

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