ClinVar Miner

List of variants reported as pathogenic by Institute of Human Genetics, Medical University Innsbruck

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ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs) rs80359505 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.3172A>T (p.Lys1058Ter) rs730881521
NM_000059.4(BRCA2):c.3283C>T (p.Gln1095Ter) rs397507662
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3915del (p.Phe1305fs) rs397507698
NM_000059.4(BRCA2):c.5390del (p.Ala1797fs) rs730882168
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000059.4(BRCA2):c.5952dup (p.Ser1985fs) rs397507814
NM_000059.4(BRCA2):c.6202dup (p.Ile2068fs) rs397507833
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.712G>T (p.Glu238Ter) rs56383036
NM_000059.4(BRCA2):c.7266T>A (p.Cys2422Ter) rs730882169
NM_000059.4(BRCA2):c.7846del (p.Ser2616fs) rs397507940
NM_000059.4(BRCA2):c.8363G>A (p.Trp2788Ter) rs80359080
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.9117+1G>A rs81002802
NM_000500.9(CYP21A2):c.1272C>A (p.Cys424Ter) rs1367112998
NM_000500.9(CYP21A2):c.1291G>A (p.Gly431Ser) rs1582312633
NM_000500.9(CYP21A2):c.509G>A (p.Cys170Tyr) rs1582304457
NM_000500.9(CYP21A2):c.525C>A (p.Tyr175Ter) rs1582304536
NM_000527.5(LDLR):c.1586+1G>C rs755389753
NM_000535.6:c.(988+1_989-1)_(1144+1_1145-1)del
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_001042492.3(NF1):c.1642-10A>G rs1597706578
NM_001042492.3(NF1):c.1722-11T>G rs2066961306
NM_001042492.3(NF1):c.2326-3T>G rs876658946
NM_001042492.3(NF1):c.2326-6T>G rs1597713670
NM_001042492.3(NF1):c.2851-6_2851-3del rs1597716256
NM_001042492.3(NF1):c.289-6T>G rs757074803
NM_001042492.3(NF1):c.3315-3C>G rs752318318
NM_001042492.3(NF1):c.6428-3C>A rs374014162
NM_001042492.3(NF1):c.6705-17G>A rs1064795966
NM_001042492.3(NF1):c.6705-3C>A rs1131691079
NM_001042492.3(NF1):c.6705-7_6705-6insAAAA rs2069724056
NM_001042492.3(NF1):c.7063-4A>G rs749805168
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) rs1057519577
NM_001733.7(C1R):c.1073G>T (p.Cys358Phe) rs1057518645
NM_001733.7(C1R):c.1092G>C (p.Trp364Cys) rs1057519578
NM_001733.7(C1R):c.1113C>G (p.Cys371Trp) rs1057519579
NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) rs1057519580
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg) rs1060499554
NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp) rs1057519025
NM_001733.7(C1R):c.869A>G (p.Asp290Gly) rs1057518643
NM_001733.7(C1R):c.890G>A (p.Gly297Asp) rs1057519026
NM_001733.7(C1R):c.899T>C (p.Leu300Pro) rs1057515579
NM_001733.7(C1R):c.902G>C (p.Arg301Pro) rs760277934
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys) rs1057519576
NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr) rs1057518646
NM_001733.7(C1R):c.927C>G (p.Cys309Trp) rs769707492
NM_001734.5(C1S):c.880T>C (p.Cys294Arg) rs886040975
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu) rs886040974
NM_007294.4(BRCA1):c.(5193+1_5194-1)_(5277+1_5278-1)del
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs) rs80357516
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs) rs80357507
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs) rs80357749
NM_007294.4(BRCA1):c.3398T>G (p.Leu1133Ter) rs80356971
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.4(BRCA1):c.3511A>T (p.Lys1171Ter) rs730882164
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.4113del (p.Cys1372fs) rs80357861
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4998C>A (p.Tyr1666Ter) rs730882165
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5167delinsTTT (p.Ile1723fs) rs730882167
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter) rs80357284
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941

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