ClinVar Miner

List of variants reported as uncertain significance for Meckel syndrome by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_030578.4(B9D2):c.496C>T (p.Arg166Cys) rs749611100 0.00004
NM_001310135.5(TTC6):c.3274C>T (p.Arg1092Ter) rs781407244 0.00002
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly) rs754930606 0.00001
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter) rs990955357 0.00001
NM_001164310.3(CIMIP2B):c.*12_*13insTAAG rs1822209511
NM_015681.6(B9D1):c.209T>C (p.Ile70Thr) rs886039811
NM_015681.6(B9D1):c.505CTC[1] (p.Leu170del)
NM_017777.4(MKS1):c.449A>T (p.Glu150Val)
NM_018952.5(HOXB6):c.415+5G>C
NM_033395.2(CEP295):c.2603del (p.Gln868fs) rs1951904805
NM_198515.3(CCDC172):c.294_297del (p.Lys98fs) rs777108726

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