ClinVar Miner

List of variants reported as likely pathogenic for Breast carcinoma by Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.2839-3_2841del rs2135547107
NM_000051.4(ATM):c.5755C>T (p.Gln1919Ter) rs2083823146
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.4(ATM):c.6840_6844del (p.Tyr2281fs) rs2136332584
NM_000051.4(ATM):c.6951_6952del (p.Lys2318fs) rs2136339054
NM_000051.4(ATM):c.8582T>C (p.Ile2861Thr) rs2137038745
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.3451_3454del (p.Thr1150_Ile1151insTer) rs2137496671
NM_000059.4(BRCA2):c.8995_8996del (p.Leu2999fs) rs2137622356
NM_000535.7(PMS2):c.683del (p.Gly228fs) rs2128799493
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs) rs748513310
NM_004360.5(CDH1):c.451del (p.Arg151fs) rs2152129697
NM_005431.2(XRCC2):c.347_350del (p.Phe116fs) rs764640893
NM_005431.2(XRCC2):c.96del (p.Phe32fs) rs730882048
NM_005591.4(MRE11):c.1100_1131del (p.Val367fs) rs1946499901
NM_007194.4(CHEK2):c.660_661del (p.Ile221fs) rs2146005460
NM_007194.4(CHEK2):c.701_720del (p.Val234fs) rs2145951528
NM_007294.4(BRCA1):c.1061del (p.Asn354fs) rs2154478354
NM_007294.4(BRCA1):c.1119_1120insCTGA (p.Thr374fs) rs2154475092
NM_007294.4(BRCA1):c.2756del (p.Pro919fs) rs2154361062
NM_007294.4(BRCA1):c.473_547+288del rs2154527022
NM_007294.4(BRCA1):c.4986+5G>A rs397509211
NM_024675.4(PALB2):c.1389dup (p.Arg464Ter) rs2142417535
NM_024675.4(PALB2):c.1704_1707del (p.Lys569fs) rs1060502759
NM_024675.4(PALB2):c.3070del (p.Glu1024fs) rs2142326815
NM_024675.4(PALB2):c.557dup (p.Asn186fs) rs1555461727
NM_024675.4(PALB2):c.932_933insC (p.Lys311fs) rs1060502772
NM_032043.3(BRIP1):c.1201del (p.Cys401fs) rs2145307439
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.918+2_918+3del rs2145410258

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