ClinVar Miner

List of variants reported as uncertain significance for Familial cancer of breast by Center for Precision Medicine, Meizhou People's Hospital

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro) rs273900712 0.00008
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696 0.00008
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala) rs587782137 0.00003
NM_000059.4(BRCA2):c.3068A>C (p.Asn1023Thr) rs776196396 0.00003
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser) rs80358568 0.00003
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127 0.00003
NM_007294.4(BRCA1):c.4748G>A (p.Arg1583Lys) rs752624544 0.00003
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012 0.00003
NM_000059.4(BRCA2):c.2671G>C (p.Val891Leu) rs756951335 0.00002
NM_000059.4(BRCA2):c.5836T>C (p.Ser1946Pro) rs80358811 0.00002
NM_000059.4(BRCA2):c.5839C>T (p.Pro1947Ser) rs80358812 0.00002
NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr) rs144784912 0.00002
NM_000059.4(BRCA2):c.8515T>C (p.Tyr2839His) rs758884639 0.00002
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) rs80356895 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser) rs276174818 0.00001
NM_000059.4(BRCA2):c.2444T>C (p.Met815Thr) rs1303254121 0.00001
NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn) rs539613324 0.00001
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met) rs80358541 0.00001
NM_000059.4(BRCA2):c.3220A>T (p.Ser1074Cys) rs145605603 0.00001
NM_000059.4(BRCA2):c.4277C>T (p.Thr1426Ile) rs748591104 0.00001
NM_000059.4(BRCA2):c.4372C>T (p.His1458Tyr) rs80358672 0.00001
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser) rs117187202 0.00001
NM_000059.4(BRCA2):c.4574A>C (p.His1525Pro) rs397507336 0.00001
NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe) rs779967765 0.00001
NM_000059.4(BRCA2):c.5624A>C (p.Lys1875Thr) rs587782583 0.00001
NM_000059.4(BRCA2):c.6638C>T (p.Ser2213Phe) rs75925841 0.00001
NM_000059.4(BRCA2):c.7488G>C (p.Lys2496Asn) rs774994294 0.00001
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu) rs202155613 0.00001
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272 0.00001
NM_007294.4(BRCA1):c.3650C>G (p.Ser1217Cys) rs398122676 0.00001
NM_007294.4(BRCA1):c.3662A>C (p.Glu1221Ala) rs273900713 0.00001
NM_007294.4(BRCA1):c.4126A>G (p.Thr1376Ala) rs576828558 0.00001
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648 0.00001
NM_000059.4(BRCA2):c.1313A>T (p.Asp438Val) rs2137470041
NM_000059.4(BRCA2):c.1378A>C (p.Asn460His) rs1270441968
NM_000059.4(BRCA2):c.1666A>G (p.Asn556Asp) rs587781794
NM_000059.4(BRCA2):c.1732G>C (p.Gly578Arg) rs1555282036
NM_000059.4(BRCA2):c.2758C>T (p.Pro920Ser) rs397507293
NM_000059.4(BRCA2):c.3197A>G (p.Asn1066Ser) rs762752733
NM_000059.4(BRCA2):c.320G>C (p.Arg107Thr) rs1172322930
NM_000059.4(BRCA2):c.3233T>G (p.Val1078Gly) rs1270386176
NM_000059.4(BRCA2):c.3253C>T (p.His1085Tyr) rs2137494760
NM_000059.4(BRCA2):c.3540G>C (p.Lys1180Asn) rs864622363
NM_000059.4(BRCA2):c.4085A>G (p.His1362Arg) rs1060502441
NM_000059.4(BRCA2):c.4430T>C (p.Ile1477Thr) rs1555283775
NM_000059.4(BRCA2):c.4679G>A (p.Ser1560Asn) rs2137508985
NM_000059.4(BRCA2):c.4712A>T (p.Glu1571Val) rs766833528
NM_000059.4(BRCA2):c.5165G>C (p.Ser1722Thr) rs773707172
NM_000059.4(BRCA2):c.5534G>A (p.Arg1845Lys) rs1593905700
NM_000059.4(BRCA2):c.6121T>A (p.Ser2041Thr) rs1160083526
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile) rs80358854
NM_000059.4(BRCA2):c.6307T>C (p.Ser2103Pro) rs2072551841
NM_000059.4(BRCA2):c.6890T>C (p.Ile2297Thr) rs1566236920
NM_000059.4(BRCA2):c.7088A>G (p.Tyr2363Cys) rs80358939
NM_000059.4(BRCA2):c.7284G>C (p.Leu2428Phe) rs2137557628
NM_000059.4(BRCA2):c.7631G>A (p.Gly2544Asp) rs397507926
NM_000059.4(BRCA2):c.7670C>T (p.Ala2557Val) rs775219538
NM_000059.4(BRCA2):c.7900A>G (p.Met2634Val) rs1207483065
NM_000059.4(BRCA2):c.7909G>C (p.Ala2637Pro) rs1593924159
NM_000059.4(BRCA2):c.8415ATC[1] (p.Ser2807del) rs1060502398
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys) rs398122710
NM_007294.4(BRCA1):c.1033G>T (p.Asp345Tyr) rs80356961
NM_007294.4(BRCA1):c.1642A>G (p.Ile548Val) rs80356981
NM_007294.4(BRCA1):c.1880T>G (p.Val627Gly) rs770002293
NM_007294.4(BRCA1):c.2210C>G (p.Thr737Arg) rs2154392997
NM_007294.4(BRCA1):c.2268G>T (p.Arg756Ser) rs80356884
NM_007294.4(BRCA1):c.266T>C (p.Ile89Thr) rs80357097
NM_007294.4(BRCA1):c.2881A>C (p.Asn961His) rs786203786
NM_007294.4(BRCA1):c.3660T>C (p.Asp1220=) rs1365746397
NM_007294.4(BRCA1):c.3876T>C (p.Ser1292=) rs2154279505
NM_007294.4(BRCA1):c.4048G>A (p.Gly1350Ser) rs748674194
NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg) rs80356916
NM_007294.4(BRCA1):c.4456A>T (p.Ser1486Cys) rs397507232
NM_007294.4(BRCA1):c.4994T>A (p.Val1665Glu) rs1476854015
NM_007294.4(BRCA1):c.5193+3_5193+4insT rs2153552780
NM_007294.4(BRCA1):c.536A>T (p.Tyr179Phe) rs56187033
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn) rs80357368
NM_007294.4(BRCA1):c.5561T>C (p.Leu1854Pro) rs80356996
NM_007294.4(BRCA1):c.671-6T>G rs878854964

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