ClinVar Miner

List of variants reported as pathogenic for ciliopathy by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129 0.00003
NM_001082538.3(TCTN1):c.342-2A>G rs730882221
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter) rs863225159
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs) rs730882217
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter) rs1292516576
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu) rs1270369106
NM_198428.3(BBS9):c.1789+1G>A rs201938124

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