ClinVar Miner

List of variants in gene GORAB reported as benign for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_152281.3(GORAB):c.21A>C (p.Gly7=) rs7531125 0.93522
NM_152281.3(GORAB):c.883G>A (p.Glu295Lys) rs913257 0.52780
NM_152281.3(GORAB):c.*1064T>A rs6427262 0.31948
NM_152281.3(GORAB):c.*47T>G rs7552922 0.15016
NM_152281.3(GORAB):c.*1065A>T rs12063774 0.05681
NM_152281.3(GORAB):c.*884C>A rs76753490 0.05650
NM_152281.3(GORAB):c.*883G>A rs76509176 0.05649
NM_152281.3(GORAB):c.62-3T>C rs73029138 0.01889
NM_152281.3(GORAB):c.657C>T (p.Tyr219=) rs76365864 0.00986
NM_152281.3(GORAB):c.*534T>C rs41272499 0.00754
NM_152281.3(GORAB):c.618C>T (p.Leu206=) rs35872826 0.00535
NM_152281.3(GORAB):c.*1217T>C rs77280970 0.00081
NM_152281.3(GORAB):c.*1298T>C rs185248405 0.00033
NM_152281.3(GORAB):c.663-12A>G rs201410218 0.00021

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