ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, kyphoscoliotic and deafness type by Invitae

Included ClinVar conditions (1):
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Total variants: 18
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HGVS dbSNP
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.156T>A (p.Tyr52Ter)
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.350-8C>T rs368867118
NM_017946.3(FKBP14):c.357T>G (p.Ile119Met) rs202182643
NM_017946.3(FKBP14):c.362dupC (p.Glu122Argfs) rs542489955
NM_017946.3(FKBP14):c.375G>C (p.Leu125=) rs143268242
NM_017946.3(FKBP14):c.467_468delCT (p.Ser156Terfs) rs753775062
NM_017946.3(FKBP14):c.48_50delTTT (p.Leu17del) rs564626031
NM_017946.3(FKBP14):c.495G>A (p.Lys165=) rs142474407
NM_017946.3(FKBP14):c.496_498delAAG (p.Lys166del) rs542254849
NM_017946.3(FKBP14):c.50T>C (p.Leu17Ser) rs1554371125
NM_017946.3(FKBP14):c.512A>C (p.His171Pro) rs147665999
NM_017946.3(FKBP14):c.568_570delAAA (p.Lys190del) rs762279651
NM_017946.3(FKBP14):c.580G>A (p.Asp194Asn)

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