ClinVar Miner

List of variants studied 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:
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ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753 0.00005
NM_030578.4(B9D2):c.496C>T (p.Arg166Cys) rs749611100 0.00004
NM_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala) rs886039806 0.00003
NM_001310135.5(TTC6):c.3274C>T (p.Arg1092Ter) rs781407244 0.00002
NM_001077418.3(TMEM231):c.316G>A (p.Glu106Lys) rs2080685279 0.00001
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly) rs754930606 0.00001
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter) rs762482919 0.00001
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter) rs990955357 0.00001
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=) rs201791586 0.00001
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001164310.3(CIMIP2B):c.*12_*13insTAAG rs1822209511
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001378615.1(CC2D2A):c.2339-2A>C rs1719092280
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg) rs1721483506
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs) rs587777145
NM_015681.6(B9D1):c.209T>C (p.Ile70Thr) rs886039811
NM_015681.6(B9D1):c.505CTC[1] (p.Leu170del)
NM_016464.5(TMEM138):c.134A>G (p.Gln45Arg) rs886039804
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter) rs786205508
NM_017777.4(MKS1):c.1126dup (p.Thr376fs) rs2143753386
NM_017777.4(MKS1):c.261+2T>A rs886039803
NM_017777.4(MKS1):c.449A>T (p.Glu150Val)
NM_018952.5(HOXB6):c.415+5G>C
NM_021807.4(EXOC4):c.1733A>G (p.Gln578Arg) rs730882233
NM_024715.4(TXNDC15):c.103+1G>A rs886039792
NM_024715.4(TXNDC15):c.673_687del (p.Ser225_His229del) rs886039791
NM_024809.5(TCTN2):c.1852C>T (p.Gln618Ter) rs1956235509
NM_025114.4(CEP290):c.673_674del (p.Leu225fs) rs886039805
NM_033395.2(CEP295):c.2603del (p.Gln868fs) rs1951904805
NM_138568.4(EXOC3L2):c.398dup (p.Leu134fs) rs886039793
NM_147127.5(EVC2):c.3870_3893dup (p.Lys1293_Lys1300dup) rs730882232
NM_153704.6(TMEM67):c.2306del (p.Leu769fs) rs2130757733
NM_153704.6(TMEM67):c.2326T>A (p.Ser776Thr) rs748937483
NM_183065.4(TMEM107):c.218C>G (p.Ser73Ter)
NM_183065.4(TMEM107):c.256+1G>A rs1131692180
NM_198515.3(CCDC172):c.294_297del (p.Lys98fs) rs777108726

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