ClinVar Miner

List of variants reported by Genologica Medica

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs) rs80359395 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_022552.5(DNMT3A):c.2207G>A (p.Arg736His) rs139293773 0.00003
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1308_1309del (p.Lys437fs) rs786201950
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs) rs80359277
NM_000059.4(BRCA2):c.1792del (p.Thr598fs) rs886040389
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.2636_2637del (p.Asp878_Ser879insTer) rs276174826
NM_000059.4(BRCA2):c.293T>G (p.Leu98Ter) rs1085308035
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs) rs80359406
NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs) rs276174854
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_000059.4(BRCA2):c.5560_5561del (p.Val1854fs) rs397507787
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5669_5673del (p.Met1890fs) rs876660311
NM_000059.4(BRCA2):c.5720_5723del (p.Asn1906_Ser1907insTer) rs80359530
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs) rs80359554
NM_000059.4(BRCA2):c.6034del (p.Ser2012fs) rs397507823
NM_000059.4(BRCA2):c.6209_6212del (p.Glu2070fs) rs276174866
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.6596del (p.Thr2199fs) rs876658294
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer) rs80359607
NM_000059.4(BRCA2):c.6650_6654del (p.Lys2217fs) rs1085308037
NM_000059.4(BRCA2):c.6652del (p.Asp2218fs) rs1085308038
NM_000059.4(BRCA2):c.67+2T>C rs81002885
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7926del (p.Phe2642fs) rs397507944
NM_000059.4(BRCA2):c.793+1G>T rs81002846
NM_000059.4(BRCA2):c.8174_8185delinsTT (p.Trp2725fs) rs730881615
NM_000059.4(BRCA2):c.8988_8990delinsTT (p.Leu2996fs) rs397508027
NM_000059.4(BRCA2):c.9018C>A (p.Tyr3006Ter) rs80359154
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs) rs80359741
NM_000059.4(BRCA2):c.9274del (p.Tyr3092fs) rs397507424
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter) rs80357215
NM_007294.4(BRCA1):c.1121_1123delinsT (p.Thr374fs) rs273897652
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.1651_1652insC (p.Ser551fs) rs886039961
NM_007294.4(BRCA1):c.1733_1734del (p.Ser578fs) rs886037991
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.2527del (p.Thr843fs) rs1085308034
NM_007294.4(BRCA1):c.2921T>A (p.Leu974Ter) rs80356872
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs) rs80357579
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter) rs80357239
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5278-1G>T rs80358099
NM_007294.4(BRCA1):c.5419del (p.Ile1807fs) rs80357934
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.70_71insTGTC (p.Cys24fs) rs80357536
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.845C>A (p.Ser282Ter) rs786203027
NM_012431.3(SEMA3E):c.621del (p.Arg208fs) rs2115654665
NM_022552.5(DNMT3A):c.1481G>C (p.Cys494Ser)
NM_022552.5(DNMT3A):c.2597+1G>A

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