ClinVar Miner

List of variants reported as benign for Ehlers-Danlos syndrome, type 4 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 12
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HGVS dbSNP
NM_000090.3(COL3A1):c.*43A>G rs8224
NM_000090.3(COL3A1):c.*799_*800del rs13306265
NM_000090.3(COL3A1):c.1257C>T (p.Ala419=) rs41272837
NM_000090.3(COL3A1):c.1293+15T>A rs2271679
NM_000090.3(COL3A1):c.1770T>C (p.Pro590=) rs80302667
NM_000090.3(COL3A1):c.1816-14G>C rs7579815
NM_000090.3(COL3A1):c.1851G>A (p.Gln617=) rs7579903
NM_000090.3(COL3A1):c.1978-11C>T rs13306272
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255
NM_000090.3(COL3A1):c.2244T>C (p.Gly748=) rs1801184
NM_000090.3(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683

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