ClinVar Miner

List of variants reported by Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University

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Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.1568A>G (p.His523Arg) rs80358443 0.00009
NM_000059.4(BRCA2):c.4578A>G (p.Thr1526=) rs202022822 0.00006
NM_000059.4(BRCA2):c.4915G>A (p.Val1639Ile) rs80358716 0.00006
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 0.00006
NM_007294.4(BRCA1):c.2387C>T (p.Thr796Ile) rs80357364 0.00005
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys) rs375125172 0.00004
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) rs397507233 0.00004
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127 0.00003
NM_000059.4(BRCA2):c.3256A>G (p.Ile1086Val) rs80358571 0.00002
NM_000059.4(BRCA2):c.4906A>G (p.Lys1636Glu) rs398122788 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.9285C>T (p.Asp3095=) rs80359198 0.00002
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_000059.4(BRCA2):c.1462A>G (p.Ile488Val) rs864622352 0.00001
NM_000059.4(BRCA2):c.171C>T (p.Tyr57=) rs201523522 0.00001
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=) rs554040246 0.00001
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296 0.00001
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser) rs117187202 0.00001
NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe) rs779967765 0.00001
NM_000059.4(BRCA2):c.5590G>A (p.Asp1864Asn) rs587781536 0.00001
NM_000059.4(BRCA2):c.5683G>A (p.Glu1895Lys) rs146351301 0.00001
NM_000059.4(BRCA2):c.7521A>G (p.Pro2507=) rs759383358 0.00001
NM_007294.4(BRCA1):c.3071G>C (p.Ser1024Thr) rs757579891 0.00001
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272 0.00001
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln) rs273902776 0.00001
NM_007294.4(BRCA1):c.837T>C (p.His279=) rs775477245 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.8633_8755del
NM_000059.4(BRCA2):c.10150C>G (p.Arg3384Gly) rs397507568
NM_000059.4(BRCA2):c.1190_1197del (p.Gln397fs) rs886037797
NM_000059.4(BRCA2):c.1211A>G (p.Asn404Ser) rs80358414
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.4(BRCA2):c.1511C>G (p.Ser504Cys) rs886037807
NM_000059.4(BRCA2):c.1591A>G (p.Lys531Glu) rs876659050
NM_000059.4(BRCA2):c.161del (p.Asn54fs) rs878853297
NM_000059.4(BRCA2):c.1786G>A (p.Asp596Asn) rs56328701
NM_000059.4(BRCA2):c.2059_2063del (p.Leu686_Asp687insTer) rs587782780
NM_000059.4(BRCA2):c.2136G>T (p.Leu712=) rs886037813
NM_000059.4(BRCA2):c.2175dup (p.Val726fs) rs276174819
NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter) rs80358529
NM_000059.4(BRCA2):c.3001del (p.Ser1001fs) rs886037801
NM_000059.4(BRCA2):c.3052A>C (p.Lys1018Gln) rs886037810
NM_000059.4(BRCA2):c.3473A>G (p.Glu1158Gly) rs886037808
NM_000059.4(BRCA2):c.3475T>G (p.Cys1159Gly) rs886037814
NM_000059.4(BRCA2):c.3834_3835del (p.His1278fs) rs886037803
NM_000059.4(BRCA2):c.4041_4042del (p.Cys1348fs) rs886037800
NM_000059.4(BRCA2):c.4148_4149del (p.Asp1383fs) rs886037799
NM_000059.4(BRCA2):c.4151del (p.Leu1384fs) rs397507710
NM_000059.4(BRCA2):c.4548C>G (p.Ile1516Met) rs886037815
NM_000059.4(BRCA2):c.454A>G (p.Thr152Ala) rs886037806
NM_000059.4(BRCA2):c.461A>G (p.Gln154Arg) rs756335278
NM_000059.4(BRCA2):c.5206C>T (p.Gln1736Ter) rs886037802
NM_000059.4(BRCA2):c.5345A>G (p.Gln1782Arg) rs758959174
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile) rs80358854
NM_000059.4(BRCA2):c.6235G>T (p.Val2079Leu) rs886037812
NM_000059.4(BRCA2):c.6256A>G (p.Ile2086Val) rs886037811
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del) rs80359588
NM_000059.4(BRCA2):c.6532dup (p.His2178fs) rs886037798
NM_000059.4(BRCA2):c.6553del (p.Ala2185fs) rs80359603
NM_000059.4(BRCA2):c.6598T>C (p.Phe2200Leu) rs886037809
NM_000059.4(BRCA2):c.67+1G>C rs81002796
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.4(BRCA2):c.7509C>T (p.Val2503=) rs766080516
NM_000059.4(BRCA2):c.7545A>G (p.Thr2515=) rs767555621
NM_000059.4(BRCA2):c.7672G>C (p.Glu2558Gln) rs886037816
NM_000059.4(BRCA2):c.7772A>G (p.Asn2591Ser) rs80359006
NM_000059.4(BRCA2):c.7967T>C (p.Leu2656Pro) rs886037817
NM_000059.4(BRCA2):c.8322dup (p.Met2775fs) rs80359706
NM_000059.4(BRCA2):c.8329A>G (p.Lys2777Glu) rs886037818
NM_000059.4(BRCA2):c.8500A>G (p.Thr2834Ala) rs886037819
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys) rs398122710
NM_000059.4(BRCA2):c.9011del (p.Lys3004fs) rs886037804
NM_000059.4(BRCA2):c.9014G>C (p.Arg3005Thr) rs886037821
NM_000059.4(BRCA2):c.9020G>A (p.Arg3007Lys) rs886037820
NM_000059.4(BRCA2):c.92G>T (p.Trp31Leu) rs397508045
NM_000059.4(BRCA2):c.9318G>A (p.Trp3106Ter) rs771203198
NM_000059.4(BRCA2):c.9401del (p.Gly3134fs) rs80359759
NM_000059.4(BRCA2):c.9753del (p.Lys3251fs) rs886037805
NM_007294.4(BRCA1):c.1299dup (p.Ser434fs) rs886037786
NM_007294.4(BRCA1):c.1819A>G (p.Lys607Glu) rs80357220
NM_007294.4(BRCA1):c.1824_1826del (p.Lys608del) rs587781614
NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp) rs587781632
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter) rs273898674
NM_007294.4(BRCA1):c.213-1G>A rs80358146
NM_007294.4(BRCA1):c.213-2A>G rs397508940
NM_007294.4(BRCA1):c.2268G>T (p.Arg756Ser) rs80356884
NM_007294.4(BRCA1):c.2556_2557insTTCACTTTTC (p.Asp853fs) rs397508979
NM_007294.4(BRCA1):c.2570T>A (p.Leu857Ter) rs886037787
NM_007294.4(BRCA1):c.2572C>T (p.Gln858Ter) rs397508983
NM_007294.4(BRCA1):c.3819_3823del (p.Gln1273fs) rs886037785
NM_007294.4(BRCA1):c.4069_4070insTTGA (p.Glu1357fs) rs886037788
NM_007294.4(BRCA1):c.4159T>C (p.Ser1387Pro) rs876658221
NM_007294.4(BRCA1):c.4189A>C (p.Arg1397=) rs886037792
NM_007294.4(BRCA1):c.4677_5075del (p.Glu1559_Thr1691del)
NM_007294.4(BRCA1):c.4704C>T (p.Ile1568=) rs886037793
NM_007294.4(BRCA1):c.4712del (p.Phe1571fs) rs886037790
NM_007294.4(BRCA1):c.4755del (p.Glu1586fs) rs886037789
NM_007294.4(BRCA1):c.4787C>T (p.Ser1596Leu) rs80357429
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter) rs80357303
NM_007294.4(BRCA1):c.4803A>G (p.Lys1601=) rs886037794
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.519del (p.Gln174fs) rs886037784
NM_007294.4(BRCA1):c.5470_5477delATTGGGCA rs80357973
NM_007294.4(BRCA1):c.5562del (p.Ile1855fs) rs886037795
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.744C>G (p.Thr248=) rs886037791
NM_007294.4(BRCA1):c.81_134del (p.Cys27_Lys45delinsTer) rs1555599208
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772

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