ClinVar Miner

List of variants reported as likely benign for syndromic craniosynostosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_016277.5(RAB23):c.*1312A>G rs11398 0.15738
NM_016277.5(RAB23):c.*416G>C rs1411578 0.15575
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161 0.07498
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_003239.5(TGFB3):c.-614C>T rs11466414 0.04715
NM_052989.3(IFT122):c.109-15T>C rs114298924 0.02307
NM_020779.4(WDR35):c.*2315G>C rs72779355 0.01383
NM_003239.5(TGFB3):c.-543T>A rs74448762 0.01331
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_020779.4(WDR35):c.*1575_*1576dup rs202074829 0.01057
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01035
NM_052989.3(IFT122):c.2415C>T (p.Arg805=) rs61744218 0.00860
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_020779.4(WDR35):c.*531T>A rs187092318 0.00530
NM_001395413.1(POR):c.508-14_508-13del rs72557912 0.00363
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_020779.4(WDR35):c.2964+12C>T rs113663112 0.00252
NM_025132.4(WDR19):c.-15G>T rs150860929 0.00252
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) rs146026277 0.00212
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473 0.00206
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
NM_020779.4(WDR35):c.3121+3G>A rs200042577 0.00199
NM_016277.5(RAB23):c.*1706T>C rs11969200 0.00198
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr) rs59912693 0.00184
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618 0.00168
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_020779.4(WDR35):c.*1681A>G rs188310451 0.00158
NM_020779.4(WDR35):c.*601A>G rs182037850 0.00146
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835 0.00103
NM_023110.3(FGFR1):c.*2104del rs201364530 0.00099
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_016277.5(RAB23):c.*677T>C rs375855440 0.00093
NM_016277.5(RAB23):c.*3189T>C rs139222657 0.00086
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn) rs201963605 0.00064
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=) rs55637244 0.00040
NM_020779.4(WDR35):c.*763T>C rs560228088 0.00036
NM_016277.5(RAB23):c.*984G>A rs148372304 0.00034
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val) rs144335584 0.00031
NM_000141.5(FGFR2):c.*674G>T rs566155088 0.00029
NM_020779.4(WDR35):c.*807T>C rs555257043 0.00026
NM_052989.3(IFT122):c.3533G>A (p.Arg1178His) rs149029829 0.00024
NM_052989.3(IFT122):c.1533G>A (p.Leu511=) rs183614690 0.00021
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337 0.00013
NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys) rs141929882 0.00012
NM_000141.5(FGFR2):c.625-10A>G rs201512833 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_025132.4(WDR19):c.6+5A>G rs201198839 0.00011
NM_000141.5(FGFR2):c.201C>T (p.Ala67=) rs200386134 0.00006
NM_002449.5(MSX2):c.286G>T (p.Val96Leu) rs769329948 0.00006
NM_002449.5(MSX2):c.*46G>T rs375964205 0.00005
NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=) rs558460047 0.00004
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_000141.5(FGFR2):c.879C>T (p.His293=) rs55745510 0.00002
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu) rs772986332 0.00001
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=) rs147674677 0.00001
NM_000141.5(FGFR2):c.1562-11A>G rs41293744 0.00001
NM_000141.5(FGFR2):c.1562A>G (p.Asp521Gly) rs55689343 0.00001
NM_005816.5(CD96):c.*869G>C rs566078679 0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_020779.4(WDR35):c.*573A>T rs140069324
NM_020779.4(WDR35):c.*998A>G rs530093062
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) rs150174636

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