ClinVar Miner

List of variants in gene combination LOC126861980, SMOC1 reported as benign for autosomal recessive disease

Included ClinVar conditions (1204):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001034852.3(SMOC1):c.858-26C>T rs116375526 0.26100
NM_001034852.3(SMOC1):c.858-19C>A rs57609901 0.15288
NM_001034852.3(SMOC1):c.857+32C>T rs34311408 0.15221
NM_001034852.3(SMOC1):c.702C>T (p.Ala234=) rs3825739 0.15211
NM_001034852.3(SMOC1):c.858-27del rs139924326

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