ClinVar Miner

List of variants reported as pathogenic by 3DMed Clinical Laboratory Inc

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_005228.5(EGFR):c.2492G>A (p.Arg831His) rs150036236 0.00003
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_005228.5(EGFR):c.988G>A (p.Glu330Lys) rs139429793 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs) rs80357729 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_000038.6(APC):c.2828C>A (p.Ser943Ter) rs1554084512
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000059.4(BRCA2):c.2595del (p.Glu866fs) rs483353111
NM_000059.4(BRCA2):c.2828_2831del (p.Ile943fs) rs397507643
NM_000059.4(BRCA2):c.2845del (p.Tyr949fs) rs397507644
NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter) rs80358683
NM_000059.4(BRCA2):c.5879del (p.Cys1960fs) rs1555284442
NM_000059.4(BRCA2):c.6085G>T (p.Glu2029Ter) rs397507828
NM_000059.4(BRCA2):c.6256_6259del (p.Ile2086fs) rs1555284612
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6408_6414del (p.Asn2137fs) rs397507851
NM_000059.4(BRCA2):c.7068dup (p.Leu2357fs) rs397507894
NM_000059.4(BRCA2):c.9053_9057del (p.Ser3018fs) rs869320800
NM_000059.4(BRCA2):c.994dup (p.Ile332fs) rs80359777
NM_000179.3(MSH6):c.1808dup (p.Glu604fs) rs1553413200
NM_000249.4(MLH1):c.1667+1G>A rs1434898623
NM_000249.4(MLH1):c.497dup (p.Leu166fs) rs587779018
NM_000249.4(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.4(MLH1):c.887T>G (p.Leu296Ter) rs63750547
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs) rs1114167806
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter) rs63750934
NM_000535.7(PMS2):c.1053del (p.Leu351fs) rs1554298756
NM_007194.4(CHEK2):c.1128del (p.Glu377fs) rs1555913881
NM_007194.4(CHEK2):c.341G>A (p.Trp114Ter) rs1555927374
NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter) rs80357481
NM_007294.4(BRCA1):c.1465G>T (p.Glu489Ter) rs80357167
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter) rs80357234
NM_007294.4(BRCA1):c.2617dup (p.Ser873fs) rs80357912
NM_007294.4(BRCA1):c.3059del (p.Pro1020fs) rs1555588460
NM_007294.4(BRCA1):c.3266del (p.Leu1089fs) rs886040109
NM_007294.4(BRCA1):c.3472G>T (p.Glu1158Ter) rs397509072
NM_007294.4(BRCA1):c.3621del (p.Lys1208fs) rs1555587401
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs) rs80357579
NM_007294.4(BRCA1):c.4120_4121del (p.Glu1373_Ser1374insTer) rs80357787
NM_007294.4(BRCA1):c.4484+2T>C rs1555582520
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter) rs80357303
NM_007294.4(BRCA1):c.5156del (p.Val1719fs) rs1057517590
NM_007294.4(BRCA1):c.5172dup (p.Glu1725fs) rs1555578360
NM_007294.4(BRCA1):c.5470_5477delATTGGGCA rs80357973
NM_007294.4(BRCA1):c.80+1G>A rs80358010
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_024675.4(PALB2):c.1652dup (p.Tyr551Ter) rs1555461176
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter) rs1555461627

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