ClinVar Miner

List of variants reported as benign for connective tissue neoplasm by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) rs3184504 0.66794
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_000038.6(APC):c.4479G>A (p.Thr1493=) rs41115 0.59177
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_022124.6(CDH23):c.7055-16A>G rs4747193 0.34615
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_022124.6(CDH23):c.1449+130T>C rs2305209 0.14152
NM_002834.3(PTPN11):c.-273G>A rs58805176 0.10884
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00782
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=) rs56341011 0.00711
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_001754.5(RUNX1):c.351+15A>G rs199881885 0.00396
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_024529.5(CDC73):c.308-16C>A rs201766013 0.00252
NM_005188.4(CBL):c.869+19A>G rs181589369 0.00232
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_022552.5(DNMT3A):c.120G>A (p.Glu40=) rs202118149 0.00001
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_058172.6(ANTXR2):c.637-10del rs373672335

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