ClinVar Miner

List of variants reported as pathogenic for ciliopathy by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter) rs200693106 0.00006
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter) rs138320978 0.00006
NM_001277115.2(DNAH11):c.4333C>T (p.Arg1445Ter) rs72657316 0.00004
NM_001277115.2(DNAH11):c.8746C>T (p.Gln2916Ter) rs797045085 0.00001
NM_017950.4(CCDC40):c.940-2A>G rs750708201 0.00001
NM_198525.3(KIF7):c.2944G>T (p.Glu982Ter) rs797045093 0.00001
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter) rs866982675
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001277115.2(DNAH11):c.12466del (p.Leu4156fs) rs1554292398
NM_001277115.2(DNAH11):c.7508_7509insTTG (p.Gly2503_Lys2504insTer) rs797045086
NM_001369.3(DNAH5):c.1427_1428del (p.Phe476fs) rs774493427
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs) rs1580731750
NM_012144.4(DNAI1):c.336del (p.Asp114fs) rs876657683
NM_018076.5(ODAD2):c.2495+1G>A rs879253744
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs) rs587777499
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024809.5(TCTN2):c.1877T>A (p.Leu626Ter) rs786204788
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_178452.4(DNAAF1):c.(?_-181)_(*77_?)del

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