ClinVar Miner

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

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Total variants: 52
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HGVS dbSNP
NM_000059.3(BRCA2):c.1075G>A (p.Glu359Lys) rs1555281730
NM_000142.4(FGFR3):c.991T>C (p.Phe331Leu) rs1246952737
NM_000222.2(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.2(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.2(KIT):c.2851_2852dup (p.Val951_Asp952insTer) rs1553893816
NM_000268.3(NF2):c.575A>G (p.Tyr192Cys) rs1555993319
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs) rs1555508929
NM_000548.5(TSC2):c.3284+1G>T rs45517289
NM_001122821.2(SET):c.740A>G (p.Glu247Gly) rs768759521
NM_001122821.2(SET):c.816dup (p.Asp273fs) rs1554777032
NM_001123383.1(BCOR):c.3779_3780AG[1] (p.Leu1262fs) rs886042842
NM_001127208.2(TET2):c.4456T>C (p.Ser1486Pro) rs1553918194
NM_001127500.3(MET):c.985C>A (p.Leu329Ile) rs1554378983
NM_001128849.2(SMARCA4):c.2729C>T (p.Thr910Met) rs1238758086
NM_001192.3(TNFRSF17):c.524C>T (p.Thr175Met) rs371163866
NM_001256071.3(RNF213):c.12841C>T (p.Arg4281Trp) rs765980348
NM_001281435.2(MAP2K4):c.571C>G (p.Leu191Val) rs1555550018
NM_001356.4(DDX3X):c.1033G>C (p.Val345Leu) rs1555953796
NM_001356.4(DDX3X):c.1588G>T (p.Gly530Cys) rs1555954272
NM_001356.4(DDX3X):c.1592G>A (p.Arg531His) rs1555954275
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_002107.6(H3-3A):c.103G>A (p.Gly35Arg) rs1553260624
NM_002430.3(MN1):c.912_914GCA[5] (p.Gln309del) rs747503495
NM_002734.4(PRKAR1A):c.329C>T (p.Ala110Val) rs1194755479
NM_002834.4(PTPN11):c.1508G>T (p.Gly503Val) rs397507546
NM_003506.4(FZD6):c.346C>T (p.Arg116Ter) rs769116796
NM_004972.3(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_006180.4(NTRK2):c.970T>A (p.Leu324Met) rs201362502
NM_007294.3(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007363.5(NONO):c.731dup (p.Asn244fs) rs1555950011
NM_020732.3(ARID1B):c.3345+1G>A rs1554231278
NM_022455.4(NSD1):c.7147G>T (p.Gly2383Cys) rs1554207664
NM_022768.4(RBM15):c.1912C>A (p.Gln638Lys) rs1553224979
NM_032335.3(PHF6):c.119C>A (p.Ala40Glu) rs1556013242
NM_145185.4(MAP2K7):c.752T>C (p.Leu251Pro) rs1555701191

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