ClinVar Miner

List of variants in gene combination CCDC103, FAM187A, GFAP reported as uncertain significance for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001258400.2(FAM187A):c.-328C>T rs539555310 0.00449
NM_001258400.2(FAM187A):c.-274T>C rs557164647 0.00021
NM_001258400.2(FAM187A):c.-280C>T rs542384155 0.00004
NM_001258400.2(FAM187A):c.-218G>A rs886053016 0.00002
NM_001258400.2(FAM187A):c.-229C>A rs940631847 0.00001
NM_001258400.2(FAM187A):c.-192G>A rs886053017
NM_001258400.2(FAM187A):c.-224C>A rs144369192
NM_001258400.2(FAM187A):c.-224C>T rs144369192
NM_001258400.2(FAM187A):c.-226C>T rs886053015

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