ClinVar Miner

List of variants reported as likely benign for multiple congenital anomalies/dysmorphic syndrome by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_015559.3(SETBP1):c.540+7405G>A rs663651 0.54347
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_021922.3(FANCE):c.-56C>T rs4713866 0.01055
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp) rs117498128 0.00693
NM_015559.3(SETBP1):c.3618T>C (p.His1206=) rs34882016 0.00689
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=) rs113053616 0.00634
NM_000135.4(FANCA):c.1826+12C>T rs183513839 0.00518
NM_001113378.2(FANCI):c.976-13A>T rs145864790 0.00501
NM_000135.4(FANCA):c.3348+29C>T rs1800348 0.00360
NM_000135.4(FANCA):c.1626+16C>T rs1800333 0.00322
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566 0.00303
NM_001018115.3(FANCD2):c.-6G>C rs3732974 0.00227
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp) rs73505420 0.00210
NM_015559.3(SETBP1):c.1158C>T (p.Asn386=) rs73472918 0.00192
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384 0.00184
NM_001018115.3(FANCD2):c.4281+115C>A rs78896323 0.00179
NM_018062.4(FANCL):c.963T>A (p.Asp321Glu) rs140088149 0.00173
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp) rs142008398 0.00114
NM_000135.4(FANCA):c.80-13C>T rs189841793 0.00110
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=) rs146054214 0.00085
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro) rs143819820 0.00061
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=) rs200742809 0.00047
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_032444.4(SLX4):c.1470C>T (p.Leu490=) rs139766312 0.00031
NM_000135.4(FANCA):c.2637C>T (p.Ala879=) rs149435806 0.00029
NM_004629.2(FANCG):c.1545C>T (p.Ala515=) rs201422773 0.00028
NM_032444.4(SLX4):c.86G>A (p.Arg29His) rs149117119 0.00026
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086 0.00025
NM_015559.3(SETBP1):c.141G>A (p.Gly47=) rs146868426 0.00025
NM_001018115.3(FANCD2):c.2877A>G (p.Gln959=) rs145953386 0.00023
NM_015559.3(SETBP1):c.3576C>T (p.Ser1192=) rs201826395 0.00023
NM_015559.3(SETBP1):c.3883G>A (p.Val1295Met) rs563768215 0.00020
NM_021922.3(FANCE):c.246G>A (p.Glu82=) rs769779495 0.00020
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg) rs138026584 0.00019
NM_015559.3(SETBP1):c.685G>A (p.Gly229Arg) rs143196787 0.00012
NM_015559.3(SETBP1):c.2607C>T (p.Ser869=) rs74499808 0.00011
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln) rs201192909 0.00011
NM_000135.4(FANCA):c.342C>T (p.Ala114=) rs777989691 0.00010
NM_000135.4(FANCA):c.1900+7T>A rs377401016 0.00009
NM_001018115.3(FANCD2):c.672C>T (p.His224=) rs371928644 0.00008
NM_022725.4(FANCF):c.349C>A (p.Pro117Thr) rs372625322 0.00008
NM_032444.4(SLX4):c.1706C>T (p.Pro569Leu) rs534528576 0.00007
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616 0.00006
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00006
NM_005431.2(XRCC2):c.39+8C>G rs200363289 0.00006
NM_032444.4(SLX4):c.165C>T (p.Cys55=) rs202030834 0.00006
NM_032444.4(SLX4):c.1896G>C (p.Gly632=) rs200859735 0.00006
NM_000135.4(FANCA):c.2015-5C>T rs780349960 0.00005
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474 0.00005
NM_001018115.3(FANCD2):c.1675A>G (p.Ile559Val) rs201408009 0.00005
NM_001018115.3(FANCD2):c.3850-17G>T rs369702202 0.00005
NM_015559.3(SETBP1):c.3681G>A (p.Glu1227=) rs377760121 0.00005
NM_015559.3(SETBP1):c.1490C>T (p.Pro497Leu) rs145133915 0.00004
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832 0.00003
NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile) rs557430935 0.00003
NM_032444.4(SLX4):c.4485G>C (p.Ala1495=) rs140872903 0.00003
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258 0.00002
NM_000135.4(FANCA):c.2502G>A (p.Leu834=) rs770993950 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00001
NM_015559.3(SETBP1):c.4209G>A (p.Glu1403=) rs565949588 0.00001
NM_000135.4(FANCA):c.1290G>T (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.2602-19G>C rs17233225
NM_000136.3(FANCC):c.1200C>T (p.Phe400=) rs767215159
NM_001018115.3(FANCD2):c.1098+27A>G rs189978498
NM_032444.4(SLX4):c.426T>A (p.Gly142=) rs377500336
NM_032444.4(SLX4):c.5250G>A (p.Ala1750=) rs370495748

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