ClinVar Miner

List of variants reported as uncertain significance for Meckel syndrome, type 1 by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 123
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.1260T>G (p.Cys420Trp)
NM_001080522.2(CC2D2A):c.1266C>G (p.Ser422Arg)
NM_001080522.2(CC2D2A):c.1546A>G (p.Met516Val)
NM_001080522.2(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001080522.2(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366
NM_001080522.2(CC2D2A):c.2687A>C (p.Glu896Ala) rs1553838206
NM_001080522.2(CC2D2A):c.3014+4A>C rs748451478
NM_001080522.2(CC2D2A):c.3154G>A (p.Asp1052Asn)
NM_001080522.2(CC2D2A):c.3689G>A (p.Arg1230Gln) rs778082588
NM_001080522.2(CC2D2A):c.3751G>A (p.Gly1251Arg)
NM_001080522.2(CC2D2A):c.3779C>T (p.Ser1260Phe) rs759726075
NM_001080522.2(CC2D2A):c.4139G>A (p.Gly1380Asp)
NM_001080522.2(CC2D2A):c.4345C>G (p.Pro1449Ala) rs375410796
NM_001080522.2(CC2D2A):c.4437G>C (p.Gln1479His) rs878854168
NM_001080522.2(CC2D2A):c.4541G>A (p.Arg1514His)
NM_001080522.2(CC2D2A):c.4552C>T (p.Arg1518Trp)
NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648
NM_001080522.2(CC2D2A):c.4682dup (p.Phe1562Ilefs) rs1553845917
NM_001080522.2(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078
NM_001080522.2(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878
NM_001082538.2(TCTN1):c.1291G>C (p.Val431Leu) rs188817098
NM_001082538.2(TCTN1):c.1522C>T (p.Leu508Phe) rs1016934113
NM_001082538.2(TCTN1):c.232T>C (p.Cys78Arg)
NM_001082538.2(TCTN1):c.298G>A (p.Val100Met) rs145478892
NM_001082538.2(TCTN1):c.890C>T (p.Thr297Met) rs200460700
NM_015272.2(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921
NM_015272.4(RPGRIP1L):c.1709A>G (p.Lys570Arg) rs111459222
NM_015272.4(RPGRIP1L):c.1772T>C (p.Val591Ala) rs201131571
NM_015272.4(RPGRIP1L):c.2173A>G (p.Asn725Asp) rs373201651
NM_015272.4(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647
NM_015272.4(RPGRIP1L):c.2293_2301delCATATGCAG (p.His765_Gln767del) rs1555602657
NM_015272.4(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590
NM_015272.4(RPGRIP1L):c.2789A>C (p.Glu930Ala) rs374694596
NM_015272.4(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452
NM_015272.4(RPGRIP1L):c.3211G>A (p.Glu1071Lys) rs864622470
NM_015272.4(RPGRIP1L):c.3301G>A (p.Ala1101Thr) rs539084201
NM_015272.4(RPGRIP1L):c.3464C>T (p.Ala1155Val) rs1436841364
NM_015272.4(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242
NM_015272.4(RPGRIP1L):c.3778G>A (p.Val1260Ile) rs781401167
NM_015272.4(RPGRIP1L):c.767C>T (p.Thr256Ile) rs151174849
NM_015681.4(B9D1):c.109G>A (p.Gly37Ser) rs771997194
NM_015681.4(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_015681.4(B9D1):c.376T>A (p.Ser126Thr) rs201299216
NM_015681.4(B9D1):c.434C>T (p.Thr145Ile) rs765607415
NM_017777.3(MKS1):c.101C>T (p.Thr34Ile)
NM_017777.3(MKS1):c.1134A>G (p.Glu378=) rs77365082
NM_017777.3(MKS1):c.1175C>T (p.Pro392Leu) rs763534380
NM_017777.3(MKS1):c.128C>G (p.Pro43Arg) rs1311306088
NM_017777.3(MKS1):c.1498A>G (p.Met500Val) rs144635826
NM_017777.3(MKS1):c.1535T>C (p.Val512Ala)
NM_017777.3(MKS1):c.1543C>T (p.Arg515Cys) rs775558298
NM_017777.3(MKS1):c.1609C>T (p.Arg537Cys) rs35464956
NM_017777.3(MKS1):c.199C>T (p.Arg67Cys) rs200340896
NM_017777.3(MKS1):c.314A>C (p.Tyr105Ser) rs1440792737
NM_017777.3(MKS1):c.368G>A (p.Arg123Gln) rs202112856
NM_017777.3(MKS1):c.371G>A (p.Arg124Gln) rs765026950
NM_017777.3(MKS1):c.544G>A (p.Val182Ile) rs200185068
NM_017777.3(MKS1):c.64C>A (p.Arg22Ser) rs1031187314
NM_017777.3(MKS1):c.763G>C (p.Gly255Arg) rs201237547
NM_017777.3(MKS1):c.857A>G (p.Asp286Gly) rs151023718
NM_017777.3(MKS1):c.904G>A (p.Asp302Asn) rs750025608
NM_024809.4(TCTN2):c.1234+5C>G rs201382614
NM_024809.4(TCTN2):c.2066G>C (p.Trp689Ser) rs771335558
NM_024809.4(TCTN2):c.668C>T (p.Thr223Met) rs145374149
NM_024809.4(TCTN2):c.688G>A (p.Asp230Asn) rs987899301
NM_024809.4(TCTN2):c.731C>T (p.Thr244Ile) rs760376471
NM_024809.4(TCTN2):c.776A>G (p.Gln259Arg) rs151318349
NM_025114.3(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.3(CEP290):c.1387G>A (p.Val463Ile) rs558414868
NM_025114.3(CEP290):c.1390G>C (p.Glu464Gln)
NM_025114.3(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.3(CEP290):c.1665A>T (p.Lys555Asn) rs374824892
NM_025114.3(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.3(CEP290):c.2098C>T (p.His700Tyr) rs369104382
NM_025114.3(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.3(CEP290):c.226G>A (p.Ala76Thr) rs373913704
NM_025114.3(CEP290):c.2367+4T>C rs1413934261
NM_025114.3(CEP290):c.2423A>G (p.Tyr808Cys)
NM_025114.3(CEP290):c.2473G>A (p.Glu825Lys)
NM_025114.3(CEP290):c.2479C>G (p.Leu827Val)
NM_025114.3(CEP290):c.2551G>A (p.Val851Ile) rs764963626
NM_025114.3(CEP290):c.3132G>T (p.Lys1044Asn)
NM_025114.3(CEP290):c.341G>A (p.Arg114His) rs150296134
NM_025114.3(CEP290):c.3442C>G (p.Leu1148Val) rs372190684
NM_025114.3(CEP290):c.3787C>A (p.Leu1263Met) rs370395204
NM_025114.3(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712
NM_025114.3(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022
NM_025114.3(CEP290):c.4045A>G (p.Met1349Val) rs923112337
NM_025114.3(CEP290):c.4288A>C (p.Asn1430His) rs749261915
NM_025114.3(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579
NM_025114.3(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708
NM_025114.3(CEP290):c.4938A>G (p.Lys1646=) rs371582975
NM_025114.3(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655
NM_025114.3(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207
NM_025114.3(CEP290):c.5158A>G (p.Thr1720Ala) rs1555205391
NM_025114.3(CEP290):c.5167A>G (p.Met1723Val) rs542400806
NM_025114.3(CEP290):c.5733G>T (p.Arg1911Ser)
NM_025114.3(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010
NM_025114.3(CEP290):c.6547C>T (p.His2183Tyr) rs535765861
NM_025114.3(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145
NM_025114.3(CEP290):c.6819-?_*171+?dup
NM_025114.3(CEP290):c.7007G>A (p.Gly2336Asp) rs863224794
NM_025114.3(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519
NM_025114.3(CEP290):c.7311G>T (p.Lys2437Asn) rs534440681
NM_025114.3(CEP290):c.790G>T (p.Val264Leu)
NM_025114.3(CEP290):c.814G>A (p.Asp272Asn) rs866480852
NM_025114.3(CEP290):c.974T>C (p.Ile325Thr)
NM_030578.3(B9D2):c.150G>C (p.Gln50His) rs747988749
NM_030578.3(B9D2):c.163_164delGCinsAA (p.Ala55Asn) rs1555756363
NM_153704.5(TMEM67):c.1426C>T (p.Pro476Ser) rs145236803
NM_153704.5(TMEM67):c.1645C>T (p.Arg549Cys) rs747025617
NM_153704.5(TMEM67):c.1674+5A>T rs863224813
NM_153704.5(TMEM67):c.1700A>G (p.Tyr567Cys) rs148726767
NM_153704.5(TMEM67):c.1961-7T>A
NM_153704.5(TMEM67):c.224G>A (p.Gly75Glu) rs780823805
NM_153704.5(TMEM67):c.2556+4T>G rs772449181
NM_153704.5(TMEM67):c.2654T>C (p.Ile885Thr)
NM_153704.5(TMEM67):c.2725G>C (p.Glu909Gln) rs878855230
NM_153704.5(TMEM67):c.443C>A (p.Ala148Glu)
NM_153704.5(TMEM67):c.511G>A (p.Val171Ile) rs200329273
NM_153704.5(TMEM67):c.517T>C (p.Cys173Arg) rs138783896
NM_153704.5(TMEM67):c.638G>A (p.Arg213His) rs770605718
NM_153704.5(TMEM67):c.934T>C (p.Ser312Pro) rs864622335

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