ClinVar Miner

List of variants reported as uncertain significance for cerebral cavernous malformation by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_007217.4(PDCD10):c.-438G>C rs546722173 0.00162
NM_194454.3(KRIT1):c.-421+190G>T rs570721041 0.00102
NM_007217.4(PDCD10):c.*199A>C rs183589284 0.00074
NM_007217.4(PDCD10):c.574G>A (p.Val192Ile) rs151267430 0.00061
NM_194454.3(KRIT1):c.*451T>C rs886062486 0.00054
NM_194454.3(KRIT1):c.-538C>T rs886062497 0.00048
NM_007217.4(PDCD10):c.*339G>A rs528574350 0.00040
NM_194456.1(KRIT1):c.-647T>C rs370781912 0.00034
NM_194454.3(KRIT1):c.*46G>A rs369227523 0.00029
NM_194456.1(KRIT1):c.-628T>A rs745344627 0.00025
NM_194454.3(KRIT1):c.*361C>G rs886062489 0.00024
NM_194454.3(KRIT1):c.1326C>G (p.Thr442=) rs150912644 0.00023
NM_194454.3(KRIT1):c.*885A>T rs567470870 0.00014
NM_007217.4(PDCD10):c.-393G>A rs779552942 0.00012
NM_194454.3(KRIT1):c.*331G>A rs888560477 0.00012
NM_194456.1(KRIT1):c.*1357A>C rs1001963724 0.00012
NM_194454.3(KRIT1):c.*182A>G rs1047129442 0.00010
NM_194454.3(KRIT1):c.*371_*372insG rs886062488 0.00009
NM_194454.3(KRIT1):c.2068T>C (p.Leu690=) rs370766145 0.00009
NM_019004.2(ANKIB1):c.-596C>T rs1437344467 0.00008
NM_007217.4(PDCD10):c.-432C>T rs886058164 0.00007
NM_007217.4(PDCD10):c.*174C>T rs886058159 0.00006
NM_194454.3(KRIT1):c.-529C>T rs886062496 0.00006
NM_007217.4(PDCD10):c.*139A>G rs758404072 0.00005
NM_194454.3(KRIT1):c.*1205T>C rs183584214 0.00004
NM_194454.3(KRIT1):c.*648A>G rs1016578182 0.00004
NM_194454.3(KRIT1):c.*578A>G rs886062485 0.00003
NM_194454.3(KRIT1):c.846-15C>T rs527439925 0.00003
NM_007217.4(PDCD10):c.*141C>T rs886058160 0.00002
NM_194454.3(KRIT1):c.-174C>A rs886062491 0.00002
NM_194454.3(KRIT1):c.-291T>C rs983066692 0.00002
NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys) rs370360812 0.00002
NM_194454.3(KRIT1):c.*77T>C rs1330882008 0.00001
NM_194454.3(KRIT1):c.-421+185C>A rs948520161 0.00001
NM_194454.3(KRIT1):c.1139C>T (p.Thr380Met) rs533696377 0.00001
NM_194454.3(KRIT1):c.1148A>G (p.His383Arg) rs1195083508 0.00001
NM_194454.3(KRIT1):c.1938A>G (p.Thr646=) rs369915828 0.00001
NM_007217.4(PDCD10):c.*221T>C rs886058158
NM_007217.4(PDCD10):c.*63T>C rs886058162
NM_007217.4(PDCD10):c.*87A>T rs886058161
NM_007217.4(PDCD10):c.151-11C>T rs886058163
NM_007217.4(PDCD10):c.557A>G (p.Lys186Arg) rs1719722974
NM_019004.2(ANKIB1):c.-516CCGGAG[4] rs886062498
NM_019004.2(ANKIB1):c.-524C>A rs950572905
NM_019004.2(ANKIB1):c.-603C>G rs932427766
NM_194454.3(KRIT1):c.*1029T>G rs972529527
NM_194454.3(KRIT1):c.*102C>T rs1789932075
NM_194454.3(KRIT1):c.*436C>T rs886062487
NM_194454.3(KRIT1):c.*450A>T rs1488573456
NM_194454.3(KRIT1):c.*62A>C rs886062490
NM_194454.3(KRIT1):c.*859C>T rs1789797274
NM_194454.3(KRIT1):c.*8G>A rs1789950973
NM_194454.3(KRIT1):c.*918C>T rs1789789119
NM_194454.3(KRIT1):c.-307A>T rs886062492
NM_194454.3(KRIT1):c.-394C>T rs886062493
NM_194454.3(KRIT1):c.-420-276C>G rs886062494
NM_194454.3(KRIT1):c.-421+240C>G rs886062495
NM_194454.3(KRIT1):c.136A>G (p.Lys46Glu) rs138431665
NM_194454.3(KRIT1):c.1974G>A (p.Val658=) rs780889522
NM_194454.3(KRIT1):c.2074GATACT[1] (p.692DT[1]) rs764839013
NM_194454.3(KRIT1):c.230A>G (p.Lys77Arg) rs1799505965
NM_194454.3(KRIT1):c.451A>G (p.Thr151Ala) rs774330517
NM_194454.3(KRIT1):c.755A>G (p.Tyr252Cys) rs1798075445
NM_194454.3(KRIT1):c.845+10C>G rs372125478
NM_194456.1(KRIT1):c.*1457T>C rs1789727080
NM_194456.1(KRIT1):c.*1555A>G rs1789715493
NM_194456.1(KRIT1):c.*1655T>G rs886062484
NM_194456.1(KRIT1):c.-632A>C rs1800915586

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