ClinVar Miner

List of variants studied for Carpenter syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_016277.5(RAB23):c.*1740C>T rs9382689 0.26771
NM_016277.5(RAB23):c.*2273T>C rs12211901 0.15833
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.*3330A>G rs72868608 0.14761
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_016277.5(RAB23):c.*2425G>A rs62415930 0.03322
NM_016277.5(RAB23):c.*1251G>A rs182662 0.01805
NM_016277.5(RAB23):c.*2485A>G rs16888376 0.01354
NM_016277.5(RAB23):c.*811G>A rs16888378 0.01316
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_016277.5(RAB23):c.-23C>T rs145059995 0.00424
NM_016277.5(RAB23):c.*544G>A rs138311113 0.00213
NM_016277.5(RAB23):c.*1706T>C rs11969200 0.00198
NM_016277.5(RAB23):c.*2008G>A rs549684091 0.00093
NM_016277.5(RAB23):c.*677T>C rs375855440 0.00093
NM_016277.5(RAB23):c.*3189T>C rs139222657 0.00086
NM_016277.5(RAB23):c.*2586G>A rs547766165 0.00079
NM_016277.5(RAB23):c.*722T>C rs143345846 0.00076
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590 0.00056
NM_016277.5(RAB23):c.*984G>A rs148372304 0.00034
NM_016277.5(RAB23):c.*3033C>T rs749068215 0.00029
NM_016277.5(RAB23):c.*1131C>G rs541307925 0.00016
NM_016277.5(RAB23):c.*1534T>G rs778774458 0.00016
NM_016277.5(RAB23):c.*2681G>A rs773395495 0.00016
NM_016277.5(RAB23):c.*2753G>A rs896219710 0.00014
NM_016277.5(RAB23):c.*2769C>A rs550035886 0.00011
NM_016277.5(RAB23):c.*2876T>C rs561133735 0.00011
NM_016277.5(RAB23):c.*3129G>C rs562371430 0.00011
NM_016277.5(RAB23):c.*920C>G rs530900959 0.00011
NM_016277.5(RAB23):c.*1665_*1667dup rs886061651 0.00005
NM_016277.5(RAB23):c.123C>T (p.Thr41=) rs759408401 0.00005
NM_016277.5(RAB23):c.*2067A>G rs191147024 0.00004
NM_016277.5(RAB23):c.*2341C>A rs571856902 0.00004
NM_016277.5(RAB23):c.*618A>G rs886061653 0.00004
NM_016277.5(RAB23):c.*81G>T rs1304531152 0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221 0.00004
NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) rs202181599 0.00004
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser) rs748638791 0.00004
NM_016277.5(RAB23):c.-49C>T rs45474592 0.00003
NM_016277.5(RAB23):c.*145T>C rs189570356 0.00001
NM_016277.5(RAB23):c.*2245T>C rs908169983 0.00001
NM_016277.5(RAB23):c.*2319T>C rs1159890588 0.00001
NM_016277.5(RAB23):c.*795G>A rs1387081917 0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_016277.5(RAB23):c.239G>A (p.Arg80Gln) rs145669565 0.00001
NM_016277.5(RAB23):c.398+9G>A rs376839366 0.00001
NM_016277.5(RAB23):c.664C>G (p.Gln222Glu) rs756536052 0.00001
NM_016277.5(RAB23):c.714A>G (p.Ter238=) rs142290596 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00001
NM_016277.5(RAB23):c.*1052T>C rs1764744688
NM_016277.5(RAB23):c.*117A>G rs1764790940
NM_016277.5(RAB23):c.*1180ATCA[3] rs139778770
NM_016277.5(RAB23):c.*1494A>G rs1764724130
NM_016277.5(RAB23):c.*1536T>G rs931746824
NM_016277.5(RAB23):c.*1817A>G rs368441472
NM_016277.5(RAB23):c.*3298A>G rs1170431413
NM_016277.5(RAB23):c.*600AATT[1] rs886061654
NM_016277.5(RAB23):c.*735T>G rs886061652
NM_016277.5(RAB23):c.*850A>G rs1764753710
NM_016277.5(RAB23):c.156-9T>C rs1380069219
NM_016277.5(RAB23):c.223A>T (p.Thr75Ser) rs774195943
NM_016277.5(RAB23):c.242-31ATTG[6] rs45542438
NM_016277.5(RAB23):c.389G>C (p.Cys130Ser) rs1485030118
NM_016277.5(RAB23):c.399-14A>T rs974936952

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