List of variants in gene combination LOC130004614, SUFU reported as pathogenic by OMIM

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_016169.4(SUFU):c.44C>T (p.Pro15Leu)	rs28942088
NM_016169.4(SUFU):c.71del (p.Pro24fs)	rs587776579
NM_016169.4(SUFU):c.71dup (p.Ala25fs)	rs587776579

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