ClinVar Miner

List of variants in gene LOC126806608, WNT7A studied 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
Gene type: Distinguish antisense genes from sense genes

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004625.4(WNT7A):c.470G>A (p.Arg157His)	rs199592697	0.00011
NM_004625.4(WNT7A):c.325G>A (p.Ala109Thr)	rs104893832
NM_004625.4(WNT7A):c.399C>A (p.Cys133Ter)

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