ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_017946.3(FKBP14):c.350-8C>T rs368867118
NM_017946.4(FKBP14):c.139T>C (p.Leu47=) rs1562840763
NM_017946.4(FKBP14):c.174G>A (p.Lys58=) rs1242692107
NM_017946.4(FKBP14):c.493_495AAG[1] (p.Lys166del) rs542254849
NM_017946.4(FKBP14):c.525G>T (p.Val175=) rs747381671
NM_017946.4(FKBP14):c.568_570del (p.Lys190del) rs762279651

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