ClinVar Miner

List of variants reported as benign for X-linked intellectual disability with marfanoid habitus by Genome-Nilou Lab

Included ClinVar conditions (7):

Syndromic X-linked intellectual disability 14
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability with marfanoid habitus; Blepharophimosis - intellectual disability syndrome, MKB type; FG syndrome
X-linked intellectual disability with marfanoid habitus; FG syndrome 1
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type
X-linked intellectual disability with marfanoid habitus; FG syndrome; MED12-related intellectual disability syndrome

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_080632.3(UPF3B):c.264-34G>A	rs2428212	0.66050
NM_005120.3(MED12):c.4415+29T>C	rs10521349	0.23097
NM_005120.3(MED12):c.736-8A>C	rs62609586	0.22423
NM_005120.3(MED12):c.205-38C>T	rs12850852	0.22082
NM_005120.3(MED12):c.3930A>C (p.Pro1310=)	rs5030619	0.21992
NM_005120.3(MED12):c.3354+27G>C	rs5030617	0.15058
NM_005120.3(MED12):c.2422+30C>T	rs2075790	0.12776

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