ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001122681.2(SH3BP2):c.*830G>A rs561967879 0.00252
NM_001122681.2(SH3BP2):c.*102G>T rs183257237 0.00173
NM_001122681.2(SH3BP2):c.*5352T>C rs76357988 0.00101
NM_001122681.2(SH3BP2):c.*2513_*2518del rs533765500 0.00092
NM_001122681.2(SH3BP2):c.*1582C>T rs191233292 0.00070
NM_001122681.2(SH3BP2):c.*1655C>T rs563251509 0.00031
NM_001122681.2(SH3BP2):c.*5109C>T rs541832240 0.00027
NM_001122681.2(SH3BP2):c.*1361C>G rs142486836 0.00026
NM_001122681.2(SH3BP2):c.*5875A>G rs531267078 0.00022
NM_001122681.2(SH3BP2):c.*2917C>T rs530055437 0.00018
NM_001122681.2(SH3BP2):c.*3916C>G rs544079376 0.00016
NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu) rs199818232 0.00015
NM_001122681.2(SH3BP2):c.79G>A (p.Val27Met) rs200207198 0.00013
NM_001122681.2(SH3BP2):c.1150C>T (p.Arg384Trp) rs529543434 0.00006
NM_001122681.2(SH3BP2):c.34A>G (p.Met12Val) rs148117486 0.00006
NM_001122681.2(SH3BP2):c.440C>T (p.Ser147Leu) rs150461713 0.00006
NM_001122681.2(SH3BP2):c.97C>T (p.Leu33=) rs774809755 0.00006
NM_001122681.2(SH3BP2):c.497C>T (p.Pro166Leu) rs567769591 0.00003
NM_001122681.2(SH3BP2):c.517+5G>A rs367984149 0.00003
NM_001122681.2(SH3BP2):c.78C>T (p.Gly26=) rs770692755 0.00001
NM_001122681.2(SH3BP2):c.*742C>A rs535270976
NM_001122681.2(SH3BP2):c.1280_1282del (p.Ser427del) rs771719677

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