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 (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) rs121917830
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg)
NM_002049.3(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002049.4(GATA1):c.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG (p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer)
NM_002049.4(GATA1):c.142_149dup (p.Ser51fs)
NM_002049.4(GATA1):c.151_186delinsT (p.Ser51fs)
NM_002049.4(GATA1):c.159_171dup (p.Ala58fs)
NM_002049.4(GATA1):c.175_193dup (p.Asp65fs)
NM_002049.4(GATA1):c.219A>G (p.Pro73=)
NM_002049.4(GATA1):c.219del (p.Val74fs)
NM_002049.4(GATA1):c.49_50del (p.Gln17fs)
NM_002049.4(GATA1):c.4dup (p.Glu2fs)
NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe)
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002834.4(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_006265.3(RAD21):c.9C>A (p.Tyr3Ter)
NM_006565.4(CTCF):c.1502_1503dup (p.Tyr502fs)
NM_006565.4(CTCF):c.1640_1650delinsT (p.Asp547fs)
NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter)
NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter)
NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs)
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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