ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, type 4 by Center for Human Genetics, Inc

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Total variants: 14
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HGVS dbSNP
NM_000090.3(COL3A1):c.1150-13T>C rs201839712
NM_000090.3(COL3A1):c.1609-17T>G rs1468376126
NM_000090.3(COL3A1):c.1744G>T (p.Gly582Cys) rs121912923
NM_000090.3(COL3A1):c.1816-19T>C rs114299724
NM_000090.3(COL3A1):c.1886A>G (p.Lys629Arg) rs1553508467
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2752G>A (p.Gly918Arg) rs1085307896
NM_000090.3(COL3A1):c.2824-9C>T rs1553509204
NM_000090.3(COL3A1):c.2975G>A (p.Arg992His) rs374527092
NM_000090.3(COL3A1):c.3068G>A (p.Gly1023Asp) rs1553509401
NM_000090.3(COL3A1):c.3201+10C>G rs372405344
NM_000090.3(COL3A1):c.3527G>A (p.Gly1176Asp) rs1553509726
NM_000090.3(COL3A1):c.636+5G>A (p.Gly195_Ser212del) rs587779688
NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg) rs587779625

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