ClinVar Miner

List of variants studied for Cushing syndrome by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (24):
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ClinVar version:
Total variants: 24
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HGVS dbSNP
NC_000016.10:g.31464785_31464789GGCGC[3]
NM_000244.3(MEN1):c.1267G>A (p.Asp423Asn) rs104894264
NM_000244.3(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_000244.3(MEN1):c.307del (p.Leu103fs) rs794728639
NM_000546.5(TP53):c.1010G>C (p.Arg337Pro) rs121912664
NM_000546.5(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.5(TP53):c.375G>A (p.Thr125=) rs55863639
NM_000546.5(TP53):c.455C>T (p.Pro152Leu) rs587782705
NM_000546.5(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.5(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.5(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.672+2T>A rs1555525703
NM_000546.5(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.77_80delinsAAGAACGT (p.Leu26fs) rs397516438
NM_000546.5(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.5(TP53):c.920-2A>G rs397516439
NM_000546.5(TP53):c.949C>T (p.Gln317Ter) rs764735889
NM_002734.4(PRKAR1A):c.623del (p.Gly208fs) rs727503379
NM_016953.4(PDE11A):c.171del (p.Thr58fs) rs529789124

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