ClinVar Miner

List of variants studied for lymphoid system disorder by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His) rs139031749 0.00021
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127 0.00017
NM_005633.4(SOS1):c.3347-1G>A rs141565234 0.00017
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr) rs727504636 0.00016
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734 0.00016
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588 0.00010
NM_006939.4(SOS2):c.1868G>A (p.Arg623His) rs138459515 0.00010
NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro) rs141214900 0.00010
NM_005633.4(SOS1):c.280A>G (p.Ile94Val) rs144757941 0.00009
NM_006767.4(LZTR1):c.1855C>T (p.Arg619Cys) rs373488966 0.00008
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu) rs730881026 0.00007
NM_006767.4(LZTR1):c.373G>A (p.Val125Ile) rs775434314 0.00007
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_006767.4(LZTR1):c.1852G>A (p.Glu618Lys) rs766345180 0.00006
NM_006767.4(LZTR1):c.2089C>T (p.Arg697Trp) rs751516987 0.00006
NM_001083116.3(PRF1):c.796A>G (p.Ile266Val) rs200824018 0.00005
NM_005633.4(SOS1):c.2312T>C (p.Ile771Thr) rs557328600 0.00005
NM_005633.4(SOS1):c.3387C>T (p.Gly1129=) rs772823827 0.00005
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122 0.00005
NM_006767.4(LZTR1):c.710G>A (p.Arg237Gln) rs773696598 0.00005
NM_006767.4(LZTR1):c.988A>G (p.Ser330Gly) rs777443417 0.00005
NM_004333.6(BRAF):c.995C>T (p.Thr332Ile) rs1008080053 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.3350A>G (p.Asn1117Ser) rs754314057 0.00004
NM_006767.4(LZTR1):c.2306C>T (p.Thr769Met) rs531211534 0.00004
NM_006767.4(LZTR1):c.946G>A (p.Val316Met) rs370315661 0.00004
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln) rs151133017 0.00004
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) rs754976061 0.00003
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys) rs375244948 0.00003
NM_002834.5(PTPN11):c.461G>C (p.Gly154Ala) rs376027245 0.00002
NM_005633.4(SOS1):c.755T>C (p.Ile252Thr) rs142094234 0.00002
NM_006767.4(LZTR1):c.2263C>T (p.Arg755Trp) rs141161152 0.00002
NM_006912.6(RIT1):c.367C>T (p.Arg123Cys) rs1213963509 0.00002
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly) rs375478974 0.00002
NM_002834.5(PTPN11):c.860A>C (p.His287Pro) rs2038527071 0.00001
NM_002834.5(PTPN11):c.940T>C (p.Phe314Leu) rs968167995 0.00001
NM_002880.4(RAF1):c.1901T>C (p.Ile634Thr) rs1013186582 0.00001
NM_002880.4(RAF1):c.31A>T (p.Ile11Phe) rs779001930 0.00001
NM_003664.5(AP3B1):c.1946G>A (p.Arg649Gln) rs748191084 0.00001
NM_004333.6(BRAF):c.254A>G (p.Tyr85Cys) rs1131691387 0.00001
NM_005633.4(SOS1):c.3707C>T (p.Pro1236Leu) rs533661246 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005633.4(SOS1):c.754A>C (p.Ile252Leu) rs1158811958 0.00001
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys) rs537601977 0.00001
NM_006767.4(LZTR1):c.1354-5T>A rs368421766 0.00001
NM_006767.4(LZTR1):c.1689G>A (p.Glu563=) rs977829129 0.00001
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu) rs747376042 0.00001
NM_006939.4(SOS2):c.1973A>G (p.Lys658Arg) rs1317956888 0.00001
NC_000002.11:g.39263079_(39347604_?)dup
NC_000022.10:g.(?_21336586)_(21353321_?)del
NM_001083116.3(PRF1):c.530G>A (p.Arg177His)
NM_002524.5(NRAS):c.368G>A (p.Arg123Lys) rs727503347
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002834.5(PTPN11):c.15-4del rs1223869705
NM_002880.4(RAF1):c.1108+9_1108+21del rs727504451
NM_002880.4(RAF1):c.176G>A (p.Arg59His) rs1559447623
NM_002880.4(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_004333.6(BRAF):c.1795A>G (p.Thr599Ala)
NM_004333.6(BRAF):c.1858A>G (p.Met620Val) rs1296245849
NM_004333.6(BRAF):c.2075T>C (p.Leu692Ser)
NM_004333.6(BRAF):c.66C>G (p.Asp22Glu)
NM_004333.6(BRAF):c.83GCGCCG[1] (p.28GA[1]) rs397507458
NM_005633.4(SOS1):c.1674G>A (p.Met558Ile)
NM_005633.4(SOS1):c.1698G>C (p.Gln566His)
NM_005633.4(SOS1):c.1750G>A (p.Glu584Lys)
NM_005633.4(SOS1):c.2153T>C (p.Ile718Thr)
NM_005633.4(SOS1):c.2973T>G (p.Phe991Leu)
NM_005633.4(SOS1):c.3241A>C (p.Asn1081His)
NM_005633.4(SOS1):c.3317A>G (p.Asp1106Gly)
NM_005633.4(SOS1):c.3391+3_3391+6del rs756201866
NM_005633.4(SOS1):c.3485C>T (p.Ala1162Val) rs1022820895
NM_005633.4(SOS1):c.3793_3795del (p.Ser1265del)
NM_005633.4(SOS1):c.38A>G (p.Glu13Gly) rs2148243276
NM_005633.4(SOS1):c.4C>A (p.Gln2Lys) rs587781174
NM_005633.4(SOS1):c.720+1G>A
NM_005633.4(SOS1):c.800T>C (p.Val267Ala)
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs) rs760978291
NM_006270.5(RRAS):c.563G>A (p.Arg188Gln) rs374621936
NM_006767.4(LZTR1):c.1141G>C (p.Ala381Pro) rs1224523480
NM_006767.4(LZTR1):c.1215C>T (p.Gly405=)
NM_006767.4(LZTR1):c.1685_1702dup (p.Arg567_Gln568insLeuGluGlnLeuCysArg) rs1924752851
NM_006767.4(LZTR1):c.1750G>A (p.Glu584Lys) rs369697241
NM_006767.4(LZTR1):c.2011_2012del (p.Leu671fs)
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln) rs370638947
NM_006767.4(LZTR1):c.2220-14T>C
NM_006767.4(LZTR1):c.22G>C (p.Gly8Arg) rs575193991
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala) rs756485244
NM_006767.4(LZTR1):c.507A>T (p.Gly169=)
NM_006767.4(LZTR1):c.808A>G (p.Thr270Ala)
NM_006912.6(RIT1):c.532C>G (p.Leu178Val) rs730881013
NM_006939.4(SOS2):c.1209C>A (p.Cys403Ter)
NM_006939.4(SOS2):c.1516T>C (p.Cys506Arg)
NM_006939.4(SOS2):c.2182G>A (p.Val728Ile) rs2139595594
NM_006939.4(SOS2):c.2668-7_2668-3del
NM_006939.4(SOS2):c.3604A>G (p.Ser1202Gly)
NM_006939.4(SOS2):c.3965T>C (p.Leu1322Pro)
NM_007373.4(SHOC2):c.1741A>G (p.Met581Val) rs1470655019
NM_012250.6(RRAS2):c.440G>A (p.Arg147Gln)
NM_030662.4(MAP2K2):c.46C>A (p.Pro16Thr) rs904859028
NM_030662.4(MAP2K2):c.523A>G (p.Ile175Val) rs373325880
NM_033360.4(KRAS):c.*101_*106del rs1339924833

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