ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, classic type, 1 by Baylor Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala) rs772929903 0.00005
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn) rs1005244744 0.00004
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) rs777625241 0.00001
NM_000093.5(COL5A1):c.1937_1946del rs2132717812
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val) rs781756159
NM_000093.5(COL5A1):c.3007-14G>A rs1838163235
NM_000093.5(COL5A1):c.3196G>A (p.Gly1066Ser) rs1838247641
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg) rs1838467288
NM_000093.5(COL5A1):c.5136+68_5136+73delinsT rs1839542247

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