ClinVar Miner

List of variants reported as uncertain significance for ciliopathy by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (273):
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Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys) rs374073337 0.00053
NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys) rs201097154 0.00027
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00016
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys) rs142106374 0.00009
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742 0.00009
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_001128178.3(NPHP1):c.223G>C (p.Val75Leu) rs760772706 0.00001
NM_000549.5(TSHB):c.374G>A (p.Cys125Tyr) rs1430091875
NM_001372.4(DNAH9):c.7345-5del rs1968092872
NM_001377.3(DYNC2H1):c.1856A>G (p.Gln619Arg) rs1858933013
NM_001377.3(DYNC2H1):c.7402C>G (p.Leu2468Val) rs1342095648
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His) rs775362535
NM_001384732.1(CPLANE1):c.8633-3T>A rs1561376157
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr) rs368248592
NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln) rs886043802
NM_015631.6(TCTN3):c.566A>G (p.Glu189Gly)
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.2557-3T>G rs1808586167
NM_176824.3(BBS7):c.497C>T (p.Ala166Val) rs1341540567
NM_198525.3(KIF7):c.2201C>T (p.Ala734Val) rs1963940594

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