ClinVar Miner

List of variants studied for connective tissue neoplasm by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) rs121917830
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg) rs751713049
NM_002049.4(GATA1):c.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG (p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer) rs2062673859
NM_002049.4(GATA1):c.142_149dup (p.Ser51fs) rs2062673949
NM_002049.4(GATA1):c.151_186delinsT (p.Ser51fs) rs2062674043
NM_002049.4(GATA1):c.159_171dup (p.Ala58fs) rs2062674122
NM_002049.4(GATA1):c.175_193dup (p.Asp65fs) rs2062674253
NM_002049.4(GATA1):c.219A>G (p.Pro73=) rs2062674480
NM_002049.4(GATA1):c.219del (p.Val74fs) rs2062674491
NM_002049.4(GATA1):c.49_50del (p.Gln17fs) rs2062673530
NM_002049.4(GATA1):c.4dup (p.Glu2fs) rs2062673272
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe) rs1655079234
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_006265.3(RAD21):c.9C>A (p.Tyr3Ter) rs758626942
NM_006565.4(CTCF):c.1502_1503dup (p.Tyr502fs) rs2052291685
NM_006565.4(CTCF):c.1640_1650delinsT (p.Asp547fs) rs2052320698
NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter) rs1293916143
NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter) rs2043042281
NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs) rs1909527513
inv(16)(p13.3q24.3)
t(11;12)(p15;p13)
t(11;17)(q23;q12-q21)
t(16;16)(p13.3;q24.3)

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