List of variants in gene combination LOC130004614, SUFU reported as likely benign by Ambry Genetics

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: 48

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HGVS	dbSNP	gnomAD frequency
NM_016169.4(SUFU):c.12G>A (p.Leu4=)	rs189234140	0.00425
NM_016169.4(SUFU):c.6G>T (p.Ala2=)	rs746555296	0.00021
NM_016169.4(SUFU):c.96G>C (p.Pro32=)	rs1483435746	0.00003
NM_016169.4(SUFU):c.18T>C (p.Pro6=)	rs2544829837	0.00001
NM_016169.4(SUFU):c.24C>T (p.Gly8=)	rs1291941856	0.00001
NM_016169.4(SUFU):c.26C>T (p.Ala9Val)	rs775491374	0.00001
NM_016169.4(SUFU):c.30C>T (p.Pro10=)	rs1315277679	0.00001
NM_016169.4(SUFU):c.45C>T (p.Pro15=)	rs767543227	0.00001
NM_016169.4(SUFU):c.68C>T (p.Pro23Leu)	rs2062290972	0.00001
NM_016169.4(SUFU):c.84G>T (p.Ser28=)	rs376752468	0.00001
NM_016169.4(SUFU):c.96G>A (p.Pro32=)	rs1483435746	0.00001
NM_016169.4(SUFU):c.9G>A (p.Glu3=)	rs561651427	0.00001
NM_016169.4(SUFU):c.102G>A (p.Leu34=)	rs2135598167
NM_016169.4(SUFU):c.105C>T (p.His35=)	rs756766794
NM_016169.4(SUFU):c.15G>A (p.Arg5=)	rs2062288402
NM_016169.4(SUFU):c.18T>G (p.Pro6=)	rs2544829837
NM_016169.4(SUFU):c.27C>A (p.Ala9=)	rs1244167364
NM_016169.4(SUFU):c.27C>T (p.Ala9=)	rs1244167364
NM_016169.4(SUFU):c.31G>C (p.Gly11Arg)	rs1322807658
NM_016169.4(SUFU):c.36C>T (p.Pro12=)	rs1564654365
NM_016169.4(SUFU):c.37A>G (p.Thr13Ala)	rs1456048322
NM_016169.4(SUFU):c.39C>G (p.Thr13=)
NM_016169.4(SUFU):c.39C>T (p.Thr13=)	rs2062289462
NM_016169.4(SUFU):c.42G>C (p.Ala14=)	rs1179829804
NM_016169.4(SUFU):c.45C>A (p.Pro15=)	rs767543227
NM_016169.4(SUFU):c.48G>C (p.Pro16=)	rs1467238395
NM_016169.4(SUFU):c.48G>T (p.Pro16=)	rs1467238395
NM_016169.4(SUFU):c.51C>T (p.Ala17=)	rs1450764224
NM_016169.4(SUFU):c.54T>A (p.Pro18=)	rs1453186079
NM_016169.4(SUFU):c.54T>C (p.Pro18=)	rs1453186079
NM_016169.4(SUFU):c.57C>A (p.Gly19=)	rs2135597702
NM_016169.4(SUFU):c.57C>T (p.Gly19=)	rs2135597702
NM_016169.4(SUFU):c.60G>A (p.Pro20=)	rs1589969926
NM_016169.4(SUFU):c.60G>C (p.Pro20=)	rs1589969926
NM_016169.4(SUFU):c.60G>T (p.Pro20=)	rs1589969926
NM_016169.4(SUFU):c.63T>G (p.Thr21=)	rs1589969931
NM_016169.4(SUFU):c.66C>G (p.Ala22=)	rs1265496966
NM_016169.4(SUFU):c.66C>T (p.Ala22=)	rs1265496966
NM_016169.4(SUFU):c.69C>G (p.Pro23=)	rs1320688671
NM_016169.4(SUFU):c.69C>T (p.Pro23=)	rs1320688671
NM_016169.4(SUFU):c.6G>A (p.Ala2=)	rs746555296
NM_016169.4(SUFU):c.72G>A (p.Pro24=)	rs1322344970
NM_016169.4(SUFU):c.72G>C (p.Pro24=)	rs1322344970
NM_016169.4(SUFU):c.81T>C (p.Ala27=)	rs2544830882
NM_016169.4(SUFU):c.81T>G (p.Ala27=)	rs2544830882
NM_016169.4(SUFU):c.84G>C (p.Ser28=)	rs376752468
NM_016169.4(SUFU):c.87C>T (p.Leu29=)	rs2135598027
NM_016169.4(SUFU):c.90T>C (p.Phe30=)	rs1589970035

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