ClinVar Miner

List of variants studied for connective and soft tissue neoplasm by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00002
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter) rs80358556 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466 0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.6704+1G>T rs1060500376 0.00001
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) rs80359391
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer) rs80359459
NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter) rs276174889
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter) rs80359011
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000546.6(TP53):c.365_366del (p.Val122fs) rs587780067
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.560-1G>C rs1202793339
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.892G>T (p.Glu298Ter) rs201744589
NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter) rs868450405
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.4985G>A (p.Trp1662Ter) rs1567611375
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001083603.3(PTCH1):c.93C>G (p.Tyr31Ter) rs756069384
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter) rs1672294906
NM_004168.4(SDHA):c.2T>G (p.Met1Arg) rs750380279
NM_004304.5(ALK):c.4298_4299del (p.Glu1433fs) rs1668950344
NM_005188.4(CBL):c.1495C>T (p.Arg499Ter) rs778927765
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_177438.3(DICER1):c.1174C>T (p.Arg392Ter) rs1131691211
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter) rs878855246

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