ClinVar Miner

List of variants studied for Al-Gazali syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):

Al-Gazali syndrome
Al-Gazali syndrome; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, spondylodysplastic type, 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln)	rs1131691530	0.00041
NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met)	rs374645024	0.00011
NM_080605.4(B3GALT6):c.148C>G (p.Pro50Ala)	rs1249919137
NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs)	rs1329926209

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