ClinVar Miner

List of variants reported as likely 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: 22
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_016008.4(DYNC2LI1):c.16C>T (p.Leu6Phe) rs146698690 0.00271
NM_015202.5(KATNIP):c.4711A>G (p.Ser1571Gly) rs138866758 0.00009
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter) rs142375551 0.00008
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_017950.4(CCDC40):c.2832+360C>T rs1567813319 0.00002
NM_001276379.2(LZTFL1):c.3G>A (p.Met1Ile) rs1354476372 0.00001
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) rs754867753 0.00001
NM_198428.3(BBS9):c.1604G>A (p.Cys535Tyr) rs1326810030 0.00001
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs) rs886039809
NM_001369.3(DNAH5):c.11028+2T>C rs773447251
NM_001378454.1(ALMS1):c.2728_2731del (p.His910fs) rs1558648189
NM_003611.3(OFD1):c.2193del (p.Arg732fs) rs1602904530
NM_006642.5(SDCCAG8):c.1853+1G>A rs1573930690
NM_012144.4(DNAI1):c.1311+2T>A rs1587085165
NM_014875.3(KIF14):c.1514T>C (p.Leu505Pro) rs1660016633
NM_014956.5(CEP164):c.347del (p.Lys116fs) rs751277203
NM_021147.5(CCNO):c.425del (p.Pro142fs) rs752527657
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) rs886039814
NM_033028.5(BBS4):c.791G>T (p.Cys264Phe) rs200113494

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