ClinVar Miner

List of variants reported as pathogenic by Department of Pediatrics, Memorial Sloan Kettering Cancer Center

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ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_004260.4(RECQL4):c.1391-1G>A rs117642173 0.00005
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) rs762307622 0.00002
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs) rs80359718 0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_000535.7(PMS2):c.538-1G>C rs988423880 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys) rs397516836 0.00001
MN1-ETV6 fusion
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter) rs80358892
NM_000059.4(BRCA2):c.7060C>T (p.Gln2354Ter) rs80358936
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000179.3(MSH6):c.878_883delinsTTCG (p.Pro293fs) rs1114167748
NM_000249.4(MLH1):c.1333C>T (p.Gln445Ter) rs1575537843
NM_000251.3(MSH2):c.352_358del (p.Tyr118fs) rs879254025
NM_000268.4(NF2):c.1613dup (p.Leu539fs) rs2147122655
NM_000268.4(NF2):c.470_479dup (p.Gly161fs) rs2146966685
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1333-1G>A rs2138140730
NM_000321.3(RB1):c.1333-2A>G rs1555286503
NM_000321.3(RB1):c.1568T>A (p.Leu523Ter) rs2138145156
NM_000321.3(RB1):c.1629_1630del (p.Glu545fs) rs1593457070
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.3(RB1):c.1754_1755dup (p.Leu586fs) rs2138327168
NM_000321.3(RB1):c.2125_2135dup (p.Lys713fs) rs2138342284
NM_000321.3(RB1):c.2237_2241del (p.Glu746fs) rs2138344622
NM_000321.3(RB1):c.2293A>T (p.Lys765Ter) rs2138344925
NM_000321.3(RB1):c.2308C>T (p.Gln770Ter) rs2138344987
NM_000321.3(RB1):c.2325+1G>T rs1131690882
NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu) rs1593539386
NM_000321.3(RB1):c.2429_2432dup (p.Ser811fs) rs2138345982
NM_000321.3(RB1):c.453del (p.Leu151_Leu152insTer) rs2138087597
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.3(RB1):c.840dup (p.His281fs) rs2138112755
NM_000321.3(RB1):c.939+1G>A rs2138116708
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000546.6(TP53):c.273G>A (p.Trp91Ter) rs876660548
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.3232dup (p.Ser1078fs) rs2151433720
NM_001042492.3(NF1):c.4388del (p.Pro1463fs) rs2151463107
NM_001042492.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_001042492.3(NF1):c.4883dup (p.Leu1628fs) rs2151537647
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_003002.4(SDHD):c.53dup (p.Leu19fs) rs886041237
NM_003073.5(SMARCB1):c.472C>T (p.Arg158Ter) rs2145978723
NM_003924.4(PHOX2B):c.234_240del (p.Pro77_Tyr78insTer) rs2153113037
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter) rs1554000360
NM_004168.4(SDHA):c.897_1260+1del
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs) rs34134064
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_007294.4(BRCA1):c.3016del (p.His1006fs) rs2154347100
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_016169.4(SUFU):c.71dup (p.Ala25fs) rs587776579
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter) rs929474806
NM_177438.3(DICER1):c.5053C>T (p.Gln1685Ter) rs886037721

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