ClinVar Miner

List of variants in gene CCDC103, GFAP studied for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.*28C>G rs11558961 0.27601
NM_002055.5(GFAP):c.*1522T>C rs17027 0.26200
NM_002055.5(GFAP):c.*338C>T rs8067254 0.14346
NM_002055.5(GFAP):c.*814T>A rs3744470 0.12217
NM_002055.5(GFAP):c.*1001G>A rs1042329 0.10683
NM_002055.5(GFAP):c.*1620C>T rs7049 0.10679
NM_002055.5(GFAP):c.*1074C>T rs117405516 0.00442
NM_213607.3(CCDC103):c.*584G>A rs1263335251

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