ClinVar Miner

List of variants in gene DRC1 reported as likely pathogenic for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_145038.5(DRC1):c.1599+1G>A rs146412095 0.00004
NM_145038.5(DRC1):c.1029-1G>T rs745800344 0.00001
NM_145038.5(DRC1):c.1009C>T (p.Gln337Ter) rs1435637520
NM_145038.5(DRC1):c.109dup (p.Gln37fs) rs750136163
NM_145038.5(DRC1):c.156-1724_244-2550del
NM_145038.5(DRC1):c.1600-2A>G
NM_145038.5(DRC1):c.357-2A>G

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