ClinVar Miner

List of variants reported as uncertain significance for X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.6097A>G (p.Met2033Val)	rs372606012	0.00007
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)	rs368913305	0.00003
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)	rs752300879	0.00001

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