ClinVar Miner

List of variants studied for Meckel syndrome by Genome-Nilou Lab

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.4065+28A>T rs6832789 0.95451
NM_025114.4(CEP290):c.6645+67G>A rs2471512 0.92687
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_001378615.1(CC2D2A):c.247+26A>G rs10000250 0.85216
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_015272.5(RPGRIP1L):c.1104-82C>T rs4133017 0.80982
NM_014875.3(KIF14):c.3096A>G (p.Glu1032=) rs6665951 0.79936
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_001378615.1(CC2D2A):c.1764+45T>G rs1558572 0.75139
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714 0.71244
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_001378615.1(CC2D2A):c.3595-55C>G rs4280723 0.69017
NM_001378615.1(CC2D2A):c.3288+41A>C rs13116304 0.68417
NM_030578.4(B9D2):c.214+25T>G rs11668109 0.66244
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_183065.4(TMEM107):c.256+46C>G rs8064449 0.61047
NM_030578.4(B9D2):c.-4-40C>G rs2241713 0.59207
NM_015681.6(B9D1):c.472+28C>T rs4924987 0.57381
NM_001378615.1(CC2D2A):c.*21G>C rs1134634 0.57021
NM_015681.6(B9D1):c.63+23G>A rs10445411 0.56182
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_014875.3(KIF14):c.4020G>A (p.Glu1340=) rs7543730 0.53314
NM_001378615.1(CC2D2A):c.1765-24A>G rs1861044 0.52969
NM_024809.5(TCTN2):c.1099+19T>C rs7137946 0.50815
NM_024809.5(TCTN2):c.891+22T>C rs7302449 0.50676
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319 0.37955
NM_014875.3(KIF14):c.4897C>G (p.Pro1633Ala) rs12120084 0.28388
NM_001378615.1(CC2D2A):c.3595-22C>T rs4280724 0.26375
NM_015272.5(RPGRIP1L):c.1401+127A>G rs7192060 0.22379
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_015272.5(RPGRIP1L):c.3432+67G>A rs113961478 0.19784
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_001378615.1(CC2D2A):c.2182-24C>T rs2041673 0.13698
NM_001378615.1(CC2D2A):c.2830-38G>T rs35309200 0.12892
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_030578.4(B9D2):c.*18G>A rs1800468 0.05927
NM_015272.5(RPGRIP1L):c.530-29G>A rs74393433 0.04932
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_183065.4(TMEM107):c.87+22A>C rs78413898 0.01477
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys) rs1003579700 0.00001
NM_017777.4(MKS1):c.728C>T (p.Thr243Met) rs749668169 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.6193A>G (p.Asn2065Asp) rs886043119 0.00001
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3:c.432-11_432-10insA
NM_001321218.2(B9D1):c.*61C>T rs11652712
NM_001378615.1(CC2D2A):c.40-122A>C rs9993580
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg) rs201237547
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile) rs2034578914
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys) rs2034330893
NM_030578.4(B9D2):c.-4-60_-4-59insT rs3217387

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