ClinVar Miner

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

Included ClinVar conditions (55):
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ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_002555.6(SLC22A18):c.257G>A (p.Arg86His) rs78838117 0.00263
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs) rs312262693 0.00004
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286 0.00001
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr) rs144050370 0.00001
APC, 1-BP DEL, 3720T
APC, 2-BP INS, CODON 1924
APC, 4-BP DEL, 7929TCTA
NM_000038.5(APC):c.4575_4576insAlu1
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000368.5(TSC1):c.495C>A (p.Cys165Ter) rs118203388
NM_000435.3(NOTCH3):c.4556T>C (p.Leu1519Pro) rs367543285
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_003072.5(SMARCA4):c.2617-3C>G rs587777463
NM_003072.5(SMARCA4):c.3239G>A (p.Gly1080Asp) rs587777464
NM_003072.5(SMARCA4):c.3533G>A (p.Trp1178Ter) rs587777460
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_003072.5(SMARCA4):c.4170+1G>A rs587777461
NM_003072.5(SMARCA4):c.643C>T (p.Gln215Ter) rs587777462
NM_003073.5(SMARCB1):c.591del (p.Gln198fs) rs587776678
NM_003073.5(SMARCB1):c.629-361_795+2103dup
NM_003073.5(SMARCB1):c.986+1G>A rs112038099
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_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs) rs312262690
NM_058172.6(ANTXR2):c.1142A>G (p.Tyr381Cys) rs137852901
NM_058172.6(ANTXR2):c.1179G>A (p.Glu393=) rs546102223
NM_058172.6(ANTXR2):c.314G>A (p.Gly105Asp) rs137852902
NM_058172.6(ANTXR2):c.566T>C (p.Ile189Thr) rs137852905
NM_058172.6(ANTXR2):c.658G>T (p.Glu220Ter) rs137852904
NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg) rs137852903
NM_177438.3(DICER1):c.3611_3616delinsT (p.Tyr1204fs) rs886037651
NM_177438.3(DICER1):c.3907_3908del (p.Leu1303fs) rs886037650
PDGFB, PDGFB/COL1A1 FUSION

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