List of variants in gene combination LOC130004614, SUFU reported as pathogenic for Gorlin syndrome; Medulloblastoma

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_016169.4(SUFU):c.14_33del (p.Arg5fs)	rs2544829771
NM_016169.4(SUFU):c.37_53del (p.Thr13fs)	rs2135597189
NM_016169.4(SUFU):c.37_53dup (p.Gly19fs)	rs2135597189
NM_016169.4(SUFU):c.53_59del (p.Pro18fs)	rs2135597558
NM_016169.4(SUFU):c.53del (p.Pro18fs)	rs2135597588
NM_016169.4(SUFU):c.71del (p.Pro24fs)	rs587776579
NM_016169.4(SUFU):c.71dup (p.Ala25fs)	rs587776579
NM_016169.4(SUFU):c.73dup (p.Ala25fs)	rs2135597894
NM_016169.4(SUFU):c.82_86del (p.Ser28fs)	rs2135597925
NM_016169.4(SUFU):c.87_88del (p.Phe30fs)	rs2544830938
NM_016169.4(SUFU):c.95del (p.Pro32fs)	rs2544831018

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