ClinVar Miner

List of variants reported as uncertain significance for Fuhrmann syndrome

Included ClinVar conditions (2):

Fuhrmann syndrome
Fuhrmann syndrome; Schinzel phocomelia syndrome; Santos syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004625.4(WNT7A):c.1028C>T (p.Thr343Met)	rs140491601	0.00038
NM_004625.4(WNT7A):c.470G>A (p.Arg157His)	rs199592697	0.00011
NM_004625.4(WNT7A):c.889A>G (p.Thr297Ala)

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