ClinVar Miner

List of variants studied for Meckel syndrome by OMIM

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter) rs116358011 0.00057
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_015681.6(B9D1):c.341+2T>C rs143149764 0.00009
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_024809.5(TCTN2):c.1506-2A>G rs374349989 0.00002
NM_024715.4(TXNDC15):c.844C>T (p.Arg282Ter) rs768237094 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_030578.4(B9D2):c.301A>C (p.Ser101Arg) rs1487082103 0.00001
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter) rs119456962 0.00001
NC_000017.11:g.(?_18856298)_(20402192_?)del
NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro) rs397514754
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.230G>C (p.Gly77Ala) rs386833830
NM_001173990.3(TMEM216):c.341T>G (p.Leu114Arg) rs386833831
NM_014875.3(KIF14):c.1750_1751del (p.Glu584fs) rs786201012
NM_014875.3(KIF14):c.1780A>T (p.Arg594Ter) rs786201013
NM_015272.5(RPGRIP1L):c.1033C>T (p.Gln345Ter) rs121918202
NM_015272.5(RPGRIP1L):c.394A>T (p.Arg132Ter) rs121918201
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.50_54dup (p.Asp19fs) rs730880323
NM_017777.4(MKS1):c.80+2T>C rs386834052
NM_024715.4(TXNDC15):c.103+1G>A rs886039792
NM_024715.4(TXNDC15):c.211dup (p.Gln71fs) rs780024847
NM_024715.4(TXNDC15):c.635T>C (p.Leu212Pro) rs760579409
NM_024715.4(TXNDC15):c.673_687del (p.Ser225_His229del) rs886039791
NM_024715.4(TXNDC15):c.956dup (p.Ser321fs) rs2150192064
NM_025114.4(CEP290):c.180+2T>A rs386834150
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_030578.4(B9D2):c.15C>A (p.His5Gln) rs1388769907
NM_153704.6(TMEM67):c.1127A>C (p.Gln376Pro) rs137853106
NM_153704.6(TMEM67):c.1575+1G>A rs386834187
NM_153704.6(TMEM67):c.2754_2756del (p.Phe919del) rs786205126
NM_153704.6(TMEM67):c.383_384del (p.His128fs) rs386834200
NM_153704.6(TMEM67):c.648del (p.Val217fs) rs386834204
NM_153704.6(TMEM67):c.870-2A>G rs386834207
NM_183065.4(TMEM107):c.256+1G>A rs1131692180
NM_183065.4(TMEM107):c.295TTC[1] (p.Phe100del) rs752171066
NM_183065.4(TMEM107):c.384del (p.Leu128fs) rs1555525895

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