ClinVar Miner

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

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys) rs200431130 0.00028
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221 0.00026
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_003072.5(SMARCA4):c.1812+3G>A rs371562008 0.00009
NM_003072.5(SMARCA4):c.263C>T (p.Pro88Leu) rs371056395 0.00009
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala) rs140920079 0.00009
NM_004168.4(SDHA):c.453C>A (p.Val151=) rs138917116 0.00006
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val) rs146434474 0.00005
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425 0.00005
NM_000321.3(RB1):c.731T>C (p.Ile244Thr) rs147754935 0.00004
NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg) rs864622373 0.00004
NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala) rs375597447 0.00004
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341 0.00004
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met) rs371832808 0.00004
NM_017841.4(SDHAF2):c.205C>T (p.Arg69Cys) rs532255760 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_000321.3(RB1):c.1859C>T (p.Thr620Met) rs554834063 0.00003
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_002382.5(MAX):c.397G>A (p.Ala133Thr) rs750459929 0.00002
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) rs762962010 0.00002
NM_004168.4(SDHA):c.1136G>A (p.Arg379His) rs770719847 0.00002
NM_000264.5(PTCH1):c.1028T>C (p.Val343Ala) rs962982192 0.00001
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met) rs587778632 0.00001
NM_000321.3(RB1):c.1351C>T (p.Arg451Cys) rs759079385 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_003072.5(SMARCA4):c.1007C>T (p.Pro336Leu) rs765058736 0.00001
NM_003072.5(SMARCA4):c.1889G>A (p.Gly630Asp) rs749533909 0.00001
NM_003072.5(SMARCA4):c.271A>C (p.Asn91His) rs755987663 0.00001
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser) rs1060502082 0.00001
NM_003072.5(SMARCA4):c.4817A>G (p.Gln1606Arg) rs878854231 0.00001
NM_003072.5(SMARCA4):c.983C>T (p.Pro328Leu) rs370097699 0.00001
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter) rs151170408 0.00001
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser) rs768055345 0.00001
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val) rs1445945083 0.00001
NM_017849.4(TMEM127):c.562A>G (p.Ile188Val) rs762657413 0.00001
NC_000013.11:g.32396899_32396902delinsTAAG rs1566260060
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter) rs1555138291
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000077.5(CDKN2A):c.392G>A (p.Arg131His) rs1563888782
NM_000251.3(MSH2):c.1958_1965del (p.Asn653fs) rs1558518449
NM_000264.5(PTCH1):c.209C>T (p.Ala70Val) rs764137082
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1294A>T (p.Lys432Ter) rs1566197747
NM_000321.3(RB1):c.1332+4A>G rs2138136847
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.3(RB1):c.1456_1457del (p.Leu486fs) rs587778832
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.3(RB1):c.1706del (p.Leu569fs) rs1131690842
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.1893del (p.Ala632fs)
NM_000321.3(RB1):c.1960+1316_2107-767del
NM_000321.3(RB1):c.2106+2T>C rs1566235515
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.3(RB1):c.2403del (p.Asn803fs)
NM_000321.3(RB1):c.2525_2526del (p.Thr841_Ser842insTer) rs1566240909
NM_000321.3(RB1):c.264+5G>A rs1131690853
NM_000321.3(RB1):c.2674C>T (p.Pro892Ser)
NM_000321.3(RB1):c.371_372del (p.Ile124fs) rs1566186125
NM_000321.3(RB1):c.381-1G>A rs1566186836
NM_000321.3(RB1):c.43_80dup (p.Pro28fs)
NM_000321.3(RB1):c.607+1G>T rs587776789
NM_000321.3(RB1):c.722del (p.Thr241fs)
NM_000321.3(RB1):c.847T>C (p.Cys283Arg)
NM_000321.3(RB1):c.868_869dup (p.Asn290fs)
NM_000321.3(RB1):c.92dup (p.Asp32fs) rs1566174147
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile) rs751795238
NM_003000.3(SDHB):c.716C>T (p.Ser239Phe) rs201098090
NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs) rs1342399494
NM_003072.5(SMARCA4):c.1813-6_1813-4del rs1864896196
NM_003072.5(SMARCA4):c.212_214dup (p.Gln71_Met72insLys) rs1555751056
NM_003072.5(SMARCA4):c.2275-3C>T rs117611401
NM_003072.5(SMARCA4):c.2713C>T (p.Arg905Cys) rs1555778721
NM_003072.5(SMARCA4):c.3277C>T (p.Arg1093Ter) rs1600335765
NM_003073.5(SMARCB1):c.712G>T (p.Ala238Ser)
NM_004168.4(SDHA):c.406C>G (p.Gln136Glu) rs1365359024
NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer) rs886041867
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr) rs1057517540
NM_020937.4(FANCM):c.4826_4827del (p.Asp1609fs) rs1375421660
NM_032444.4(SLX4):c.859_860del (p.Ser287fs) rs1567176006

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