List of variants studied for cancer by University Health Network, Princess Margaret Cancer Centre

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)	rs531398630	0.00008
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	rs11540652	0.00002
NM_000546.6(TP53):c.375G>A (p.Thr125=)	rs55863639	0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His)	rs28934578	0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His)	rs397514495	0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	rs28934575	0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)	rs41293465	0.00001
NM_000038.6(APC):c.1383_1390delinsATGAATGA (p.His462_His464delinsTer)	rs2149792567
NM_000051.4(ATM):c.7736_7737insC (p.Arg2579fs)	rs2136525140
NM_000546.6(TP53):c.1118del (p.Lys373fs)	rs2150988776
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)	rs730881999
NM_000546.6(TP53):c.438G>A (p.Trp146Ter)	rs1131691026
NM_000546.6(TP53):c.537T>A (p.His179Gln)	rs876660821
NM_000546.6(TP53):c.637C>T (p.Arg213Ter)	rs397516436
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	rs121912651
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)	rs28934571
NM_000546.6(TP53):c.811G>T (p.Glu271Ter)	rs1060501191
NM_000546.6(TP53):c.818G>A (p.Arg273His)	rs28934576
NM_000546.6(TP53):c.880G>T (p.Glu294Ter)	rs1057520607
NM_007194.4(CHEK2):c.684-1G>A	rs1298667185
NM_007294.4(BRCA1):c.1195_1196del (p.Ser398_His399insTer)	rs2154471163
Single allele

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