ClinVar Miner

List of variants studied for Ohdo syndrome and variants by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (4):

Genitopatellar syndrome; Young Simpson syndrome
Ohdo syndrome, X-linked
X-linked mental retardation with marfanoid habitus syndrome; FG syndrome 1; Ohdo syndrome, X-linked
Young Simpson syndrome

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Total variants: 4

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HGVS	dbSNP
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)	rs752300879
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)	rs368913305
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)	rs80338758
NM_005120.3(MED12):c.6097A>G (p.Met2033Val)	rs372606012

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