ClinVar Miner

List of variants reported as likely pathogenic by Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center

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Total variants: 68
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HGVS dbSNP
NC_000004.12:g.104314621_104314622insG rs1578264146
NM_000051.3(ATM):c.5005G>A (p.Glu1669Lys) rs1591693095
NM_000465.4(BARD1):c.1946_1966del (p.Glu649_Glu655del) rs1574706907
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000875.5(IGF1R):c.3464G>A (p.Gly1155Asp) rs1596476061
NM_001033910.3(TRAF5):c.1254_1257del (p.Glu419fs) rs756183569
NM_001042492.3(NF1):c.5476C>A (p.His1826Asn) rs1135402871
NM_001079668.3(NKX2-1):c.436G>A (p.Ala146Thr) rs1594406727
NM_001080517.3(SETD5):c.2837C>T (p.Pro946Leu) rs936256673
NM_001080541.2(MGA):c.3733G>C (p.Glu1245Gln) rs1595889508
NM_001126112.2(TP53):c.216dup (p.Val73fs) rs730882018
NM_001130145.3(YAP1):c.488C>G (p.Ser163Cys) rs1591100766
NM_001287491.2(TET3):c.2362G>A (p.Glu788Lys) rs751524927
NM_001304815.1(CIC):c.7506dup (p.Pro2503fs) rs1422380205
NM_001367321.1(TRNT1):c.*1998T>A rs1575079076
NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu) rs113488022
NM_001412.4(EIF1AX):c.295G>A (p.Glu99Lys) rs1603415028
NM_001754.4(RUNX1):c.259G>T (p.Gly87Cys) rs561166961
NM_002185.5(IL7R):c.205C>G (p.Leu69Val) rs1580851879
NM_002447.4(MST1R):c.1477G>T (p.Asp493Tyr) rs1575446356
NM_002850.4(PTPRS):c.4756G>A (p.Val1586Met) rs140472977
NM_002892.4(ARID4A):c.2614G>T (p.Glu872Ter) rs1594966387
NM_002957.6(RXRA):c.671G>A (p.Ser224Asn) rs1588299621
NM_003073.5(SMARCB1):c.1129C>G (p.Arg377Gly) rs1601446826
NM_003200.5(TCF3):c.1823-478G>A rs1599413207
NM_003482.3(KMT2D):c.11897_11911del (p.Phe3966_Gln3971delinsTer) rs1592119138
NM_003482.3(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.4(KMT2D):c.10624_10625del (p.Leu3542fs) rs1592123162
NM_003511.3(H2AC16):c.44C>G (p.Ala15Gly) rs890521687
NM_003514.2(H2AC17):c.364G>A (p.Glu122Lys) rs1581495906
NM_003529.3(H3C1):c.400G>C (p.Glu134Gln) rs764264135
NM_003590.5(CUL3):c.1499G>A (p.Gly500Asp) rs1574631977
NM_004119.3(FLT3):c.1714T>C (p.Tyr572His) rs1208575764
NM_004187.5(KDM5C):c.67G>T (p.Glu23Ter) rs1602247047
NM_004217.4(AURKB):c.847C>T (p.Arg283Cys) rs1597343914
NM_004260.4(RECQL4):c.3136G>A (p.Glu1046Lys) rs771349728
NM_004380.3(CREBBP):c.5188A>G (p.Ile1730Val) rs1159294530
NM_004656.4(BAP1):c.1787G>C (p.Ser596Thr) rs1478603808
NM_004690.4(LATS1):c.2449G>A (p.Glu817Lys) rs1582867955
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) rs121913240
NM_005027.4(PIK3R2):c.572C>A (p.Ser191Ter) rs1418268495
NM_005027.4(PIK3R2):c.850G>A (p.Val284Met) rs1212577459
NM_005235.3(ERBB4):c.785G>A (p.Cys262Tyr) rs1575051224
NM_005245.4(FAT1):c.2668G>A (p.Glu890Lys) rs1579484570
NM_005245.4(FAT1):c.720G>A (p.Met240Ile) rs1579491104
NM_005321.3(H1-4):c.133A>C (p.Thr45Pro) rs951047896
NM_005475.3(SH2B3):c.1087C>T (p.Pro363Ser) rs1029296641
NM_005627.4(SGK1):c.1094A>G (p.Asn365Ser) rs1171390403
NM_006037.3(HDAC4):c.1565C>T (p.Pro522Leu) rs372078034
NM_006219.3(PIK3CB):c.2961G>T (p.Glu987Asp) rs1577033077
NM_006312.6(NCOR2):c.5909C>A (p.Ser1970Tyr) rs1593107841
NM_006494.4(ERF):c.228G>A (p.Met76Ile) rs1599824091
NM_007194.4(CHEK2):c.1421G>T (p.Arg474Leu) rs121908706
NM_014953.5(DIS3):c.2335A>T (p.Ile779Phe) rs1593835248
NM_015247.2(CYLD):c.2040dup (p.Asp681fs) rs1597073318
NM_015474.4(SAMHD1):c.259G>C (p.Glu87Gln) rs1600394490
NM_015559.3(SETBP1):c.1703G>T (p.Ser568Ile) rs1599367044
NM_017628.4(TET2):c.1438C>T (p.Pro480Ser) rs1578673280
NM_021913.5(AXL):c.2161C>G (p.Leu721Val) rs1599744167
NM_021946.4(BCORL1):c.2242C>T (p.Gln748Ter) rs1603113792
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro) rs121913527
NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu) rs746646631
NM_170606.3(KMT2C):c.9137T>C (p.Leu3046Pro) rs1003155450
NM_170606.3(KMT2C):c.9181C>G (p.Gln3061Glu) rs1587941402
NM_175629.2(DNMT3A):c.7G>T (p.Ala3Ser) rs745380962
NM_175635.3(RUNX1T1):c.127A>C (p.Thr43Pro) rs1587007112
NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg) rs1603452612
NM_198437.3(AURKA):c.1038C>A (p.Phe346Leu) rs1455074519

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