ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, musculocontractural type 2

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP
NM_013352.4(DSE):c.1225G>A (p.Glu409Lys)
NM_013352.4(DSE):c.1568G>A (p.Gly523Glu) rs1562313702
NM_013352.4(DSE):c.1897G>A (p.Val633Met) rs550208733
NM_013352.4(DSE):c.1926= (p.Asn642=) rs560644
NM_013352.4(DSE):c.2005A>G (p.Ile669Val) rs145999978
NM_013352.4(DSE):c.2619_2621del (p.Gly874del) rs111252008
NM_013352.4(DSE):c.355A>C (p.Asn119His)
NM_013352.4(DSE):c.799A>G (p.Arg267Gly) rs1554227382
NM_013352.4(DSE):c.803C>T (p.Ser268Leu) rs398122361

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