ClinVar Miner

List of variants in gene CHST3 reported as benign for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.*3932G>T rs1871451 0.66877
NM_004273.5(CHST3):c.*763C>A rs4148941 0.66871
NM_004273.5(CHST3):c.*2422T>C rs4148949 0.65038
NM_004273.5(CHST3):c.*4432T>A rs1871452 0.65004
NM_004273.5(CHST3):c.*1844C>T rs4148946 0.63737
NM_004273.5(CHST3):c.-294C>G rs4148907 0.61843
NM_004273.5(CHST3):c.*4533C>T rs730720 0.44450
NM_004273.5(CHST3):c.*4107T>C rs731027 0.44435
NM_004273.5(CHST3):c.*1278C>T rs4148943 0.44347
NM_004273.5(CHST3):c.*3785G>A rs1871450 0.39651
NM_004273.5(CHST3):c.*3477G>A rs4148950 0.39647
NM_004273.5(CHST3):c.*4785G>A rs12418 0.39638
NM_004273.5(CHST3):c.*1888T>C rs4148947 0.39562
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) rs3740129 0.36709
NM_004273.5(CHST3):c.*1361C>T rs4148945 0.34681
NM_004273.5(CHST3):c.*3053C>T rs12172746 0.19352
NM_004273.5(CHST3):c.*3987G>A rs56218110 0.19306
NM_004273.5(CHST3):c.*1314G>A rs4148944 0.16928
NM_004273.5(CHST3):c.*2170T>G rs79099269 0.00981
NM_004273.5(CHST3):c.1160G>A (p.Arg387His) rs145384892 0.00906
NM_004273.5(CHST3):c.1173C>A (p.Ile391=) rs115579748 0.00763
NM_004273.5(CHST3):c.*3301G>A rs75962504 0.00729
NM_004273.5(CHST3):c.108C>G (p.Val36=) rs77124584 0.00681
NM_004273.5(CHST3):c.417C>T (p.Ala139=) rs144287889 0.00564
NM_004273.5(CHST3):c.1347C>T (p.Arg449=) rs200249458 0.00538
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00480
NM_004273.5(CHST3):c.1428C>T (p.Phe476=) rs75845750 0.00421
NM_004273.5(CHST3):c.828C>T (p.Arg276=) rs140547825 0.00397
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) rs184636110 0.00097
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) rs140411224 0.00072
NM_004273.5(CHST3):c.*2464C>G rs117578356 0.00050
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys) rs150466838 0.00038
NM_004273.5(CHST3):c.*4300G>A rs141062797 0.00011
NM_004273.5(CHST3):c.513A>G (p.Thr171=) rs567771631 0.00004
NM_004273.5(CHST3):c.*2349A>G rs4148948
NM_004273.5(CHST3):c.*4421G>C rs730722
NM_004273.5(CHST3):c.1380C>A (p.Ala460=) rs369055984
NM_004273.5(CHST3):c.465G>C (p.Gln155His)

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