ClinVar Miner

List of variants studied for cardiovascular neoplasm by Genome Sciences Centre, British Columbia Cancer Agency

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000791.4(DHFR):c.-416C>G rs2001675 0.00949
NM_000051.4(ATM):c.1837_1839del (p.Val613del) rs2135353566
NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg) rs121913474
NM_000179.3(MSH6):c.3644T>A (p.Leu1215Ter) rs2104526529
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser) rs886039394
NM_000249.4(MLH1):c.884G>T (p.Ser295Ile) rs63750144
NM_000489.6(ATRX):c.3904del (p.Arg1302fs) rs2148497062
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter) rs2148020083
NM_001123385.2(BCOR):c.398_399insAC (p.Ala134fs) rs1555919960
NM_001123385.2(BCOR):c.4063G>T (p.Glu1355Ter) rs780712297
NM_001123385.2(BCOR):c.4787_4802del (p.Gly1596fs) rs1555913337
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs) rs782297546
NM_001374828.1(ARID1B):c.4453C>T (p.Gln1485Ter) rs2128366503
NM_003070.5(SMARCA2):c.3638G>C (p.Arg1213Pro) rs1314729940
NM_003072.5(SMARCA4):c.276G>C (p.Gln92His) rs1555752030
NM_003073.5(SMARCB1):c.110G>C (p.Arg37Pro) rs398122368
NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter) rs1565779530
NM_004656.4(BAP1):c.188C>G (p.Ser63Cys) rs747311942
NM_004656.4(BAP1):c.374A>C (p.Glu125Ala) rs1553645926
NM_004972.4(JAK2):c.2385G>T (p.Arg795Ser) rs1819621092
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) rs121913530
NM_004991.4(MECOM):c.2200C>T (p.Gln734Ter) rs1553838272
NM_006218.4(PIK3CA):c.2086G>A (p.Gly696Arg) rs2108413471
NM_017617.5(NOTCH1):c.2825G>A (p.Cys942Tyr) rs1554728658
NM_017617.5(NOTCH1):c.4045_4052del (p.Ala1349fs) rs1554728034
NM_139276.3(STAT3):c.1467T>A (p.Asn489Lys) rs1555564365
NM_152641.4(ARID2):c.2989C>T (p.Gln997Ter) rs1555155110
Single allele
t(12;16)(q13.13;p11.2)
t(17;19)(q25.1;p13.3)
t(6;9)(q23.3;p22.3)
t(8;9)(q13.1;p22.3)

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