ClinVar Miner

List of variants reported for not provided by GeneKor MSA

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ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter) rs80358711 0.00001
NM_000059.4(BRCA2):c.793+1G>A rs81002846 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) rs80187739 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_000038.6(APC):c.1594C>T (p.Gln532Ter) rs1554081901
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.2829_2838+16delinsA rs1565420196
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter) rs397507571
NM_000059.4(BRCA2):c.1306_1307del (p.Lys436fs) rs80359278
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs) rs80359277
NM_000059.4(BRCA2):c.1588A>T (p.Lys530Ter) rs879255325
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter) rs587781471
NM_000059.4(BRCA2):c.2435del (p.Asn812fs) rs80359329
NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs) rs80359374
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3554_3563del (p.Thr1185fs) rs397507675
NM_000059.4(BRCA2):c.378dup (p.Ala127fs) rs879255321
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs) rs80359460
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer) rs80359484
NM_000059.4(BRCA2):c.5162del (p.Asn1721fs) rs1555284090
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_000059.4(BRCA2):c.5379_5380insTT (p.Val1794fs) rs879255329
NM_000059.4(BRCA2):c.537dup (p.Ile180fs) rs1566219199
NM_000059.4(BRCA2):c.5557dup (p.Cys1853fs) rs587782011
NM_000059.4(BRCA2):c.6211del (p.Ser2071fs) rs431825338
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.4(BRCA2):c.6839_6840insA (p.Glu2282fs) rs1555284866
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7234_7235insG (p.Thr2412fs) rs397507906
NM_000059.4(BRCA2):c.7617+1G>T rs397507922
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7914del (p.Pro2639fs) rs879255332
NM_000059.4(BRCA2):c.7919_7928del (p.Lys2640fs) rs879255333
NM_000059.4(BRCA2):c.8052_8053dup (p.Thr2685fs) rs397507958
NM_000059.4(BRCA2):c.8200_8209del (p.Asp2733_Pro2734insTer) rs398122599
NM_000059.4(BRCA2):c.8680C>T (p.Gln2894Ter) rs397508002
NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter) rs80359247
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000465.4(BARD1):c.632T>A (p.Leu211Ter) rs762171436
NM_005732.4(RAD50):c.1245+1G>A rs1561639636
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_005732.4(RAD50):c.3103G>T (p.Glu1035Ter) rs1561650088
NM_007194.4(CHEK2):c.1461+2T>C rs779844113
NM_007294.4(BRCA1):c.1140dup (p.Lys381fs) rs876659327
NM_007294.4(BRCA1):c.1142_1143del (p.Lys381fs) rs879255313
NM_007294.4(BRCA1):c.1292_1295del (p.Leu431fs) rs1555591984
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.135-2A>G rs80358065
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter) rs80356893
NM_007294.4(BRCA1):c.1622_1626del (p.Gln541fs) rs879255314
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) rs80357526
NM_007294.4(BRCA1):c.195del (p.Asn66fs) rs80357869
NM_007294.4(BRCA1):c.212+1G>T rs80358042
NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter) rs80356875
NM_007294.4(BRCA1):c.2196del (p.Glu733fs) rs397508948
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.2511del (p.Asn838fs) rs1555589501
NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter) rs886038001
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.2933dup (p.Tyr978Ter) rs878853292
NM_007294.4(BRCA1):c.2983A>T (p.Lys995Ter) rs879255315
NM_007294.4(BRCA1):c.3132del (p.Asn1045fs) rs879255316
NM_007294.4(BRCA1):c.3288_3289del (p.Leu1098fs) rs80357686
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.3535A>T (p.Lys1179Ter) rs587782188
NM_007294.4(BRCA1):c.3553G>T (p.Glu1185Ter) rs397509081
NM_007294.4(BRCA1):c.397del (p.Arg133fs) rs886037973
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs) rs80357727
NM_007294.4(BRCA1):c.4094T>G (p.Leu1365Ter) rs398122681
NM_007294.4(BRCA1):c.4113del (p.Cys1372fs) rs80357861
NM_007294.4(BRCA1):c.4485-1G>T rs80358189
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4698_4704dup (p.Ser1569fs) rs879255318
NM_007294.4(BRCA1):c.4945del (p.Arg1649fs) rs80357655
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+4A>T rs80358087
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_007294.4(BRCA1):c.5492del (p.Pro1831fs) rs80357582
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.849dup (p.Gln284fs) rs1555592986
NM_024675.4(PALB2):c.2747_2748+4del rs786203892
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter) rs864622138
NM_024675.4(PALB2):c.48+1G>A rs515726118
NM_032043.3(BRIP1):c.2575+1G>A rs1567737536
NM_032043.3(BRIP1):c.298del (p.Asp99_Met100insTer) rs1567874779

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