ClinVar Miner

List of variants studied for ciliopathy by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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_001369.3(DNAH5):c.962C>T (p.Ser321Leu) rs201077964 0.00040
NM_020366.4(RPGRIP1):c.3238+3A>G rs1389509266 0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800 0.00001
NM_001082538.3(TCTN1):c.1454G>A (p.Trp485Ter) rs1593376626
NM_001177701.3(IFT27):c.116C>G (p.Thr39Arg) rs1938280351
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) rs745949846
NM_001378454.1(ALMS1):c.1437_1450del (p.Asp479fs) rs1572931120
NM_001378454.1(ALMS1):c.1601dup (p.Thr534_Asp535insTer) rs1572931360
NM_003611.3(OFD1):c.2791_2795del (p.Lys931fs) rs1602942625
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly) rs554196965
NM_014714.4(IFT140):c.3070G>T (p.Glu1024Ter) rs777889289
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter) rs1323529877
NM_014956.5(CEP164):c.4286+1G>T rs2047400808
NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter) rs1555616593
NM_024649.5(BBS1):c.777del (p.Glu260fs) rs1555047786
NM_025114.4(CEP290):c.2317dup (p.Ser773fs) rs1555218898
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_153717.3(EVC):c.1554dup (p.Leu519fs) rs1553876870
NM_153717.3(EVC):c.384G>T (p.Arg128=) rs1553865346
NM_170784.3(MKKS):c.-41_985+60del
NM_170784.3(MKKS):c.613A>T (p.Lys205Ter) rs1555802009
NM_198428.3(BBS9):c.785T>C (p.Val262Ala) rs886039875

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