ClinVar Miner

List of variants reported as benign for Ehlers-Danlos syndrome, kyphoscoliotic and deafness type

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_017946.3(FKBP14):c.165C>T (p.Tyr55=) rs17150692
NM_017946.3(FKBP14):c.330C>T (p.Gly110=) rs148034796
NM_017946.3(FKBP14):c.34C>G (p.Leu12Val) rs112905680
NM_017946.3(FKBP14):c.375G>C (p.Leu125=) rs143268242
NM_017946.3(FKBP14):c.48_50del (p.Leu17del) rs564626031
NM_017946.3(FKBP14):c.495G>A (p.Lys165=) rs142474407

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