ClinVar Miner

List of variants reported as pathogenic for ciliopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (273):
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ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His) rs200321595 0.00011
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) rs119456961 0.00002
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755 0.00001
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn) rs111033570 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.6012-2A>G rs555755221 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_001080463.1(DYNC2H1):c.7293-2_7298delAGTTACCC rs1862217660
NM_001329943.3(KIAA0586):c.1629G>A (p.Trp543Ter) rs2040056901
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs) rs752925056
NM_001378454.1(ALMS1):c.2897del (p.Gln966fs) rs1671880064
NM_001378615.1(CC2D2A):c.1149+1G>A rs1553827236
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_014714.4(IFT140):c.558G>A (p.Trp186Ter) rs2035218747
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter) rs780905861
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs) rs886043303
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.7027del (p.Val2343fs) rs2033827549

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