ClinVar Miner

List of variants reported by Donald Williams Parsons Laboratory, Baylor College of Medicine

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_001256071.3(RNF213):c.12841C>T (p.Arg4281Trp) rs765980348 0.00003
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_002734.5(PRKAR1A):c.329C>T (p.Ala110Val) rs1194755479 0.00002
NM_000142.5(FGFR3):c.991T>C (p.Phe331Leu) rs1246952737 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_001192.3(TNFRSF17):c.524C>T (p.Thr175Met) rs371163866 0.00001
NM_001211.6(BUB1B):c.1648C>T (p.Arg550Ter) rs767213728 0.00001
NM_003011.4(SET):c.701A>G (p.Glu234Gly) rs768759521 0.00001
NM_003506.4(FZD6):c.346C>T (p.Arg116Ter) rs769116796 0.00001
NM_177438.3(DICER1):c.2062C>T (p.Arg688Ter) rs886037684 0.00001
NM_207111.4(RNF216):c.2468G>A (p.Arg823His) rs761469213 0.00001
NC_012920.1:m.1555A>G rs267606617
NC_012920.1:m.3243A>G rs199474657
NM_000059.4(BRCA2):c.1075G>A (p.Glu359Lys) rs1555281730
NM_000059.4(BRCA2):c.1273_1274del (p.Glu425fs) rs1555281805
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000222.3(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.3(KIT):c.2851_2852dup (p.Val951_Asp952insTer) rs1553893816
NM_000245.4(MET):c.985C>A (p.Leu329Ile) rs1554378983
NM_000251.3(MSH2):c.1692_1693del (p.Lys565_Asn566insTer) rs1553367635
NM_000268.4(NF2):c.575A>G (p.Tyr192Cys) rs1555993319
NM_000546.6(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs) rs1555508929
NM_000548.5(TSC2):c.3284+1G>T rs45517289
NM_001015877.2(PHF6):c.119C>A (p.Ala40Glu) rs1556013242
NM_001123385.2(BCOR):c.3883_3884del (p.Leu1296fs) rs886042842
NM_001127208.3(TET2):c.4456T>C (p.Ser1486Pro) rs1553918194
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001356.5(DDX3X):c.1033G>C (p.Val345Leu) rs1555953796
NM_001356.5(DDX3X):c.1588G>T (p.Gly530Cys) rs1555954272
NM_001356.5(DDX3X):c.1592G>A (p.Arg531His) rs1555954275
NM_001374828.1(ARID1B):c.3714+1G>A rs1554231278
NM_001455.4(FOXO3):c.583A>T (p.Lys195Ter) rs1554209779
NM_001455.4(FOXO3):c.699G>A (p.Trp233Ter) rs1554218944
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.133_135del (p.Ser45del) rs587776850
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_001904.4(CTNNB1):c.1374A>C (p.Glu458Asp) rs1553631848
NM_001904.4(CTNNB1):c.770C>T (p.Thr257Ile) rs1553630452
NM_001904.4(CTNNB1):c.84_95del (p.Gln28_Asp32delinsHis) rs1553630102
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_001943.5(DSG2):c.523+1G>C rs553299589
NM_002107.7(H3-3A):c.103G>A (p.Gly35Arg) rs1553260624
NM_002430.3(MN1):c.912GCA[5] (p.Gln309del) rs747503495
NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter) rs1554879741
NM_002834.5(PTPN11):c.1508G>T (p.Gly503Val) rs397507546
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_003010.4(MAP2K4):c.538C>G (p.Leu180Val) rs1555550018
NM_003011.4(SET):c.777dup (p.Asp260fs) rs1554777032
NM_003072.5(SMARCA4):c.1155_1157del (p.Glu386del) rs1555756326
NM_003072.5(SMARCA4):c.2729C>T (p.Thr910Met) rs1238758086
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707
NM_004817.4(TJP2):c.813_814del (p.Ala273fs) rs1554660803
NM_004972.4(JAK2):c.2798C>A (p.Pro933Gln) rs1554676441
NM_005120.3(MED12):c.130G>A (p.Gly44Ser) rs199469669
NM_005120.3(MED12):c.131G>A (p.Gly44Asp) rs199469672
NM_005120.3(MED12):c.5980C>T (p.Arg1994Trp) rs1556339256
NM_005973.5(PRCC):c.908C>T (p.Pro303Leu) rs1294198270
NM_006015.6(ARID1A):c.2732G>T (p.Arg911Met) rs1553152166
NM_006015.6(ARID1A):c.6259G>A (p.Gly2087Arg) rs1553153748
NM_006180.6(NTRK2):c.970T>A (p.Leu324Met) rs201362502
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006741.4(PPP1R1A):c.372_373delinsCA (p.Glu124_Ser125delinsAspThr) rs1064792893
NM_007194.4(CHEK2):c.1100_1101del (p.Thr367fs) rs1555913934
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.68_70del (p.Glu23_Cys24delinsGly) rs1555600876
NM_007294.4(BRCA1):c.697_699del (p.Val233del) rs1555593294
NM_007363.5(NONO):c.731dup (p.Asn244fs) rs1555950011
NM_022455.5(NSD1):c.7147G>T (p.Gly2383Cys) rs1554207664
NM_022768.5(RBM15):c.1912C>A (p.Gln638Lys) rs1553224979
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_024426.6(WT1):c.880_882del (p.Tyr294del) rs1554945033
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_145185.4(MAP2K7):c.752T>C (p.Leu251Pro) rs1555701191
NM_152383.5(DIS3L2):c.2381_2382del (p.Arg794fs) rs1553551874

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