ClinVar Miner

List of variants reported as likely pathogenic by Genome Sciences Centre,British Columbia Cancer Agency

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Total variants: 36
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HGVS dbSNP
NC_000010.10:g.43611191_61663279inv
NM_000038.6(APC):c.1682del (p.Lys561fs) rs1554082118
NM_000059.3(BRCA2):c.3504G>T (p.Met1168Ile) rs1555283267
NM_000244.3(MEN1):c.1594C>T (p.Arg532Ter) rs104894261
NM_000244.3(MEN1):c.245_259del (p.Asp82_Ile86del) rs1555166508
NM_000244.3(MEN1):c.798+1G>A rs794728652
NM_000244.3(MEN1):c.996_1021del (p.Tyr332_Glu341delinsTer) rs1555165008
NM_000267.3(NF1):c.6789_6792del (p.Tyr2264fs) rs1555535032
NM_000321.2(RB1):c.1981C>T (p.Arg661Trp) rs137853294
NM_000489.5(ATRX):c.1558G>T (p.Val520Phe) rs1287383551
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.5(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.5(TP53):c.919+1G>T rs1131691039
NM_001123383.1(BCOR):c.3961G>T (p.Glu1321Ter) rs780712297
NM_001123383.1(BCOR):c.398_399insAC (p.Ala134fs) rs1555919960
NM_001123383.1(BCOR):c.4685_4700del (p.Gly1562fs) rs1555913337
NM_001130823.3(DNMT1):c.1645-1G>T rs1568234664
NM_001350.5(DAXX):c.1178del (p.Lys393fs) rs1359674497
NM_001350.5(DAXX):c.325_326CT[2] (p.Leu109_Ser110insTer) rs1554283140
NM_001350.5(DAXX):c.801_824del (p.Arg269_Asn276del) rs1554282803
NM_001350.5(DAXX):c.850C>T (p.Pro284Ser) rs1554282793
NM_002430.3(MN1):c.772_776del (p.His258fs) rs1568986076
NM_002430.3(MN1):c.785del (p.Gly262fs) rs1568986066
NM_003482.3(KMT2D):c.11047C>T (p.Gln3683Ter) rs1565779530
NM_004958.4(MTOR):c.6625C>G (p.Leu2209Val) rs774204282
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) rs121913240
NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys) rs749415085
NM_015125.4(CIC):c.290_291insT (p.Gly99fs) rs1568503055
NM_015125.4(CIC):c.643C>T (p.Arg215Trp) rs1568504941
NM_017617.5(NOTCH1):c.2825G>A (p.Cys942Tyr) rs1554728658
NM_017617.5(NOTCH1):c.4045_4052del (p.Ala1349fs) rs1554728034
NM_152641.4(ARID2):c.2989C>T (p.Gln997Ter) rs1555155110
Single allele
dup(11)(q13.1q13.1)
inv(22)(q12.2q12.2)
t(5;22)(q31.2;q12.1)

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