ClinVar Miner

List of variants reported as pathogenic for ciliopathy by Counsyl

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919 0.00012
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362 0.00008
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_024685.4(BBS10):c.1244del (p.His415fs) rs760642305 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424 0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) rs121908176 0.00001
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter) rs1273181642 0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter) rs121908180 0.00001
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter) rs779690256 0.00001
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) rs548681312 0.00001
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter) rs146538906 0.00001
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs) rs755616266
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter) rs367877017
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs) rs768759374
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs) rs779366889
NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs) rs1553404109
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) rs1034630858
NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs) rs1553404283
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer) rs1225343345
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs) rs1553409715
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_024649.5(BBS1):c.124+1G>A rs1057516449
NM_024649.5(BBS1):c.1642del (p.Leu548fs) rs1555050404
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024685.4(BBS10):c.118A>T (p.Lys40Ter) rs202228478
NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter) rs1555521501
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter) rs73198165
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801

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