ClinVar Miner

List of variants in gene GPC6 reported as likely benign for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005708.5(GPC6):c.*1261G>A rs141909370 0.00569
NM_005708.5(GPC6):c.1341C>T (p.Pro447=) rs140196319 0.00261
NM_005708.5(GPC6):c.*4169A>C rs528405141 0.00064
NM_005708.5(GPC6):c.*126G>C rs117059477 0.00041
NM_005708.5(GPC6):c.10T>A (p.Trp4Arg) rs200925249 0.00021
NM_005708.5(GPC6):c.*38A>T rs115454779
NM_005708.5(GPC6):c.*694CT[1] rs10606518

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