ClinVar Miner

List of variants reported as uncertain significance for Carpenter syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_016277.5(RAB23):c.*1180_*1183ATCA[3] rs139778770
NM_016277.5(RAB23):c.*1251G>A rs182662
NM_016277.5(RAB23):c.*145T>C rs189570356
NM_016277.5(RAB23):c.*1665_*1667dup rs886061651
NM_016277.5(RAB23):c.*544G>A rs138311113
NM_016277.5(RAB23):c.*600_*603AATT[1] rs886061654
NM_016277.5(RAB23):c.*618A>G rs886061653
NM_016277.5(RAB23):c.*722T>C rs143345846
NM_016277.5(RAB23):c.*735T>G rs886061652
NM_016277.5(RAB23):c.*920C>G rs530900959
NM_016277.5(RAB23):c.*984G>A rs148372304
NM_016277.5(RAB23):c.-23C>T rs145059995
NM_016277.5(RAB23):c.-49C>T rs45474592
NM_016277.5(RAB23):c.239G>A (p.Arg80Gln) rs145669565
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896
NM_016277.5(RAB23):c.398+9G>A rs376839366
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590
NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) rs202181599
NM_016277.5(RAB23):c.714A>G (p.Ter238=) rs142290596
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042
NM_183227.2(RAB23):c.242-15_242-12dupATTG rs45542438

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