ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

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Total variants: 11
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NM_017946.3(FKBP14):c.116A>G (p.His39Arg) rs778007431
NM_017946.3(FKBP14):c.119G>A (p.Arg40His) rs1554371032
NM_017946.3(FKBP14):c.182C>T (p.Ser61Phe)
NM_017946.3(FKBP14):c.233C>T (p.Thr78Ile)
NM_017946.3(FKBP14):c.357T>G (p.Ile119Met) rs202182643
NM_017946.3(FKBP14):c.467_468delCT rs753775062
NM_017946.3(FKBP14):c.50T>C (p.Leu17Ser) rs1554371125
NM_017946.3(FKBP14):c.511C>T (p.His171Tyr)
NM_017946.3(FKBP14):c.512A>C (p.His171Pro) rs147665999
NM_017946.3(FKBP14):c.580G>A (p.Asp194Asn) rs1439447377
NM_017946.3(FKBP14):c.595A>G (p.Ile199Val)

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