ClinVar Miner

List of variants studied for Cerebroretinal microangiopathy with calcifications and cysts 1

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Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15238
NM_025099.6(CTC1):c.2386-13T>G rs3027237 0.04073
NM_025099.6(CTC1):c.2160C>T (p.Thr720=) rs3027235 0.04058
NM_025099.6(CTC1):c.366A>G (p.Ala122=) rs73244859 0.02139
NM_025099.6(CTC1):c.*43C>T rs3027245 0.01554
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242 0.01548
NM_025099.6(CTC1):c.126A>G (p.Val42=) rs116271319 0.01470
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly) rs78390421 0.01469
NM_025099.6(CTC1):c.1307G>A (p.Arg436His) rs75790638 0.01383
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala) rs62620189 0.01383
NM_025099.6(CTC1):c.1383G>A (p.Gln461=) rs145192682 0.01148
NM_025099.6(CTC1):c.3591C>G (p.Ser1197=) rs115990839 0.01042
NM_025099.6(CTC1):c.197+15C>T rs111473388 0.00989
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610 0.00947
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613 0.00946
NM_025099.6(CTC1):c.1617+11G>A rs114425026 0.00535
NM_025099.6(CTC1):c.477G>T (p.Leu159=) rs200658590 0.00148
NM_025099.6(CTC1):c.13C>T (p.Arg5Trp) rs201280372 0.00140
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329 0.00136
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter) rs147714487 0.00118
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796 0.00114
NM_025099.6(CTC1):c.663T>C (p.Gly221=) rs138725914 0.00105
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653 0.00083
NM_025099.6(CTC1):c.2522G>A (p.Arg841His) rs780358670 0.00049
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953 0.00048
NM_025099.6(CTC1):c.189C>G (p.Leu63=) rs188658691 0.00044
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738 0.00036
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe) rs542477730 0.00035
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp) rs199698527 0.00032
NM_025099.6(CTC1):c.1207-4C>T rs369904656 0.00031
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser) rs183556317 0.00029
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly) rs199473676 0.00026
NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro) rs62637612 0.00024
NM_025099.6(CTC1):c.34-9T>G rs201195157 0.00024
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464 0.00024
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=) rs369209127 0.00022
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008 0.00019
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392 0.00019
NM_025099.6(CTC1):c.695G>A (p.Arg232Gln) rs201592575 0.00013
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp) rs771646414 0.00011
NM_025099.6(CTC1):c.680C>T (p.Ala227Val) rs199473673 0.00011
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg) rs200137992 0.00010
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700 0.00009
NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys) rs201879837 0.00009
NM_025099.6(CTC1):c.3247G>A (p.Glu1083Lys) rs201885165 0.00009
NM_025099.6(CTC1):c.1946-6C>T rs369285521 0.00008
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648 0.00008
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln) rs778830884 0.00008
NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr) rs139078502 0.00007
NM_025099.6(CTC1):c.2611G>A (p.Val871Met) rs369255297 0.00007
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_025099.6(CTC1):c.3191C>T (p.Thr1064Met) rs1001797761 0.00007
NM_025099.6(CTC1):c.1378C>T (p.Arg460Cys) rs561676622 0.00006
NM_025099.6(CTC1):c.1765C>T (p.Arg589Cys) rs759152295 0.00006
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp) rs200222583 0.00006
NM_025099.6(CTC1):c.596C>T (p.Thr199Met) rs747323535 0.00006
NM_025099.6(CTC1):c.2800G>A (p.Ala934Thr) rs369721966 0.00005
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) rs202138550 0.00005
NM_025099.6(CTC1):c.3425T>A (p.Leu1142His) rs201455840 0.00005
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln) rs201788219 0.00005
NM_025099.6(CTC1):c.1682G>A (p.Arg561His) rs373690929 0.00004
NM_025099.6(CTC1):c.1683dup (p.Lys562Ter) rs1053748363 0.00004
NM_025099.6(CTC1):c.2260C>G (p.Pro754Ala) rs370354906 0.00004
NM_025099.6(CTC1):c.3222-4A>G rs562479062 0.00004
NM_025099.6(CTC1):c.3505G>A (p.Val1169Ile) rs377491661 0.00004
NM_025099.6(CTC1):c.1058del (p.Ser353fs) rs199473675 0.00003
NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile) rs201560353 0.00003
NM_025099.6(CTC1):c.1625G>A (p.Arg542Gln) rs776684484 0.00003
NM_025099.6(CTC1):c.19C>T (p.Gln7Ter) rs374877315 0.00003
NM_025099.6(CTC1):c.2012C>G (p.Ser671Cys) rs764799661 0.00003
NM_025099.6(CTC1):c.2453G>A (p.Arg818Gln) rs772328631 0.00003
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs) rs761922947 0.00003
NM_025099.6(CTC1):c.1360del (p.Glu454fs) rs748852501 0.00002
NM_025099.6(CTC1):c.2353G>A (p.Glu785Lys) rs201561504 0.00002
NM_025099.6(CTC1):c.2371G>A (p.Asp791Asn) rs754090012 0.00002
NM_025099.6(CTC1):c.2758+1G>T rs200609323 0.00002
NM_025099.6(CTC1):c.3196A>T (p.Thr1066Ser) rs373875495 0.00002
NM_025099.6(CTC1):c.3494C>T (p.Pro1165Leu) rs766537691 0.00002
NM_025099.6(CTC1):c.3532C>T (p.Arg1178Ter) rs200919310 0.00002
NM_025099.6(CTC1):c.363G>A (p.Ser121=) rs770555372 0.00002
NM_025099.6(CTC1):c.500C>T (p.Pro167Leu) rs1390966539 0.00002
NM_025099.6(CTC1):c.738C>G (p.Ile246Met) rs1463129527 0.00002
NM_025099.6(CTC1):c.980T>C (p.Leu327Ser) rs902038280 0.00002
NM_025099.6(CTC1):c.1117T>C (p.Tyr373His) rs1200884099 0.00001
NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly) rs747887601 0.00001
NM_025099.6(CTC1):c.1500C>T (p.Pro500=) rs761750183 0.00001
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475 0.00001
NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter) rs952398755 0.00001
NM_025099.6(CTC1):c.1818+1G>A rs773716148 0.00001
NM_025099.6(CTC1):c.1871G>A (p.Arg624Gln) rs377423237 0.00001
NM_025099.6(CTC1):c.1899G>C (p.Leu633=) rs983492190 0.00001
NM_025099.6(CTC1):c.2128G>A (p.Ala710Thr) rs1567604032 0.00001
NM_025099.6(CTC1):c.2333G>A (p.Gly778Asp) rs1427706121 0.00001
NM_025099.6(CTC1):c.233G>A (p.Arg78His) rs369627256 0.00001
NM_025099.6(CTC1):c.2386-1G>A rs199861310 0.00001
NM_025099.6(CTC1):c.2439G>A (p.Pro813=) rs200759730 0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859 0.00001
NM_025099.6(CTC1):c.2581G>T (p.Glu861Ter) rs1987206904 0.00001
NM_025099.6(CTC1):c.2686G>T (p.Val896Leu) rs761241839 0.00001
NM_025099.6(CTC1):c.2698G>A (p.Ala900Thr) rs371670247 0.00001
NM_025099.6(CTC1):c.2996C>A (p.Pro999His) rs780572571 0.00001
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala) rs777357385 0.00001
NM_025099.6(CTC1):c.3406G>A (p.Glu1136Lys) rs761553012 0.00001
NM_025099.6(CTC1):c.421G>A (p.Val141Ile) rs532695142 0.00001
NM_025099.6(CTC1):c.444C>A (p.Asp148Glu) rs542910040 0.00001
NM_025099.6(CTC1):c.598C>T (p.Pro200Ser) rs772395506 0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080 0.00001
NM_025099.6(CTC1):c.859C>T (p.Arg287Ter) rs397514660 0.00001
NM_025099.6(CTC1):c.917G>A (p.Arg306His) rs567779457 0.00001
NM_025099.6(CTC1):c.1070_1074del (p.Ser357fs) rs773120259
NM_025099.6(CTC1):c.1241G>A (p.Gly414Glu) rs62624978
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala) rs62624978
NM_025099.6(CTC1):c.131_134del (p.Asp44fs) rs1250113146
NM_025099.6(CTC1):c.13C>G (p.Arg5Gly) rs201280372
NM_025099.6(CTC1):c.14G>A (p.Arg5Gln) rs1449419140
NM_025099.6(CTC1):c.1535A>T (p.Asp512Val)
NM_025099.6(CTC1):c.1818+36C>T rs4792621
NM_025099.6(CTC1):c.1A>C (p.Met1Leu) rs779499831
NM_025099.6(CTC1):c.2176del (p.His726fs)
NM_025099.6(CTC1):c.2346del (p.Leu783fs) rs761076987
NM_025099.6(CTC1):c.248G>A (p.Ser83Asn) rs78870822
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025099.6(CTC1):c.24C>A (p.Val8=) rs749818659
NM_025099.6(CTC1):c.2831del (p.Pro944fs) rs199473677
NM_025099.6(CTC1):c.2831dup (p.His945fs) rs199473677
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del) rs199473679
NM_025099.6(CTC1):c.2996dup (p.Pro999_Glu1000insTer) rs1567599993
NM_025099.6(CTC1):c.2T>A (p.Met1Lys) rs1299853886
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
NM_025099.6(CTC1):c.3152G>A (p.Arg1051Gln)
NM_025099.6(CTC1):c.3221+1G>A rs766644829
NM_025099.6(CTC1):c.33C>T (p.Ser11=) rs757066174
NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter) rs199473682
NM_025099.6(CTC1):c.371_372dup (p.Glu125fs)
NM_025099.6(CTC1):c.502C>T (p.Pro168Ser) rs1385087993
NM_025099.6(CTC1):c.556G>C (p.Val186Leu) rs185346402
NM_025099.6(CTC1):c.615C>T (p.Tyr205=) rs571035242
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_025099.6(CTC1):c.798_802del (p.Gln268fs)
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_025099.6(CTC1):c.8C>T (p.Ala3Val) rs923853643
NM_025099.6(CTC1):c.951_956del (p.318LE[2]) rs766700799
NM_025099.6(CTC1):c.973C>T (p.Pro325Ser)

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