List of variants in gene SFRP4 reported as pathogenic for Pyle disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003014.3(SFRP4):c.694C>T	rs755007671
NM_003014.4(SFRP4):c.481_487del (p.Val161fs)	rs879253778
NM_003014.4(SFRP4):c.499dup (p.Asp167fs)	rs879255603

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