List of variants in gene SUFU studied for Gorlin syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_016169.4(SUFU):c.*20T>G	rs4917980	0.99823
NM_016169.4(SUFU):c.1365+19T>C	rs12414407	0.68304
NM_016169.4(SUFU):c.182+16C>T	rs2274351	0.46492
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)	rs137880855	0.00015
NM_016169.4(SUFU):c.1296+1638C>T	rs368920108	0.00014
NM_016169.4(SUFU):c.183-4G>A	rs766044613	0.00005
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)	rs746322193	0.00002
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp)	rs201326378	0.00001
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)	rs778125780	0.00001
NM_016169.4(SUFU):c.1022dup (p.Ser342fs)	rs2135889249
NM_016169.4(SUFU):c.1023-3C>T	rs550262133
NM_016169.4(SUFU):c.1147_1150del (p.Leu383fs)	rs2492780008
NM_016169.4(SUFU):c.1296+1635C>A	rs975490066
NM_016169.4(SUFU):c.160del (p.Val54fs)	rs2135598717

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