ClinVar Miner

List of variants reported as pathogenic for benign connective and soft tissue neoplasm

Included ClinVar conditions (20):
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ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303 0.00001
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286 0.00001
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr) rs144050370 0.00001
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly) rs1555730197
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) rs1174625611
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) rs1236699193
NM_000435.3(NOTCH3):c.4556T>C (p.Leu1519Pro) rs367543285
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_002609.4(PDGFRB):c.1519_1520insTACTGTCGGTGC (p.Val506_Arg507insLeuLeuSerVal) rs1760406652
NM_002609.4(PDGFRB):c.1610C>A (p.Ala537Asp) rs1760301176
NM_002609.4(PDGFRB):c.1613T>A (p.Ile538Asn) rs1760301005
NM_002609.4(PDGFRB):c.1615_1616insGAT (p.Ile538_Leu539insArg) rs1060499541
NM_002609.4(PDGFRB):c.1679C>T (p.Pro560Leu)
NM_002609.4(PDGFRB):c.1682_1684del (p.Arg561_Tyr562delinsHis) rs1760272027
NM_002609.4(PDGFRB):c.1684T>G (p.Tyr562Asp) rs1760271956
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) rs1060499542
NM_002609.4(PDGFRB):c.1697_1702del (p.Trp566_Val568delinsLeu) rs1060499543
NM_002609.4(PDGFRB):c.1699A>G (p.Lys567Glu) rs1554108389
NM_002609.4(PDGFRB):c.1716_1717insGAGCTGATCCGATGGAAGGTGATTGAGTCTGTG (p.Val572_Ser573insGluLeuIleArgTrpLysValIleGluSerVal) rs1760270922
NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys) rs864309711
NM_002609.4(PDGFRB):c.1998C>G (p.Asn666Lys) rs864309711
NM_002609.4(PDGFRB):c.2483C>A (p.Ala828Glu)
NM_002609.4(PDGFRB):c.2549A>T (p.Asp850Val) rs1060499540
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs) rs797045835
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter) rs104894905
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro) rs104894904
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter) rs104894902
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter) rs141571609
NM_015922.3(NSDHL):c.904del (p.Tyr302fs) rs587784225
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter) rs587784226
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.3(FGFR1):c.1671del (p.Leu557fs) rs1816433701
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150

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