ClinVar Miner

List of variants reported as pathogenic for connective tissue neoplasm by GeneReviews

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_001285829.1(CEBPA):c.-217del rs137852730
NM_001285829.1(CEBPA):c.-290del rs137852728
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_003977.4(AIP):c.241C>T (p.Arg81Ter) rs267606541
NM_003977.4(AIP):c.721A>G (p.Lys241Glu) rs267606573
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup) rs267606578
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567
NM_003977.4(AIP):c.811C>T (p.Arg271Trp) rs267606579
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_004364.4(CEBPA):c.198_201dupCTAC (p.Ile68Leufs*41) rs137852731
NM_004364.4(CEBPA):c.217_218insC (p.Phe73fs) rs137852733
NM_004364.4(CEBPA):c.318_319dupTG (p.Asp107Valfs*54) rs137852732
NM_004364.4(CEBPA):c.68dupC (p.His24Alafs) rs137852728
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys) rs137853863
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.370G>A (p.Gly124Ser) rs137853862
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901

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