ClinVar Miner

List of variants reported as pathogenic for anterior pituitary gland disease

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000244.3(MEN1):c.1846T>A (p.Ter616Arg)
NM_000949.7(PRLR):c.511C>T (p.Arg171Ter)
NM_000949.7(PRLR):c.806C>T (p.Pro269Leu)
NM_001204316.1(PRLR):c.635A>G (p.His212Arg) rs398122522
NM_002070.3(GNAI2):c.535C>G (p.Arg179Gly) rs137853226
NM_003977.3(AIP):c.241C>T (p.Arg81Ter) rs267606541
NM_003977.3(AIP):c.40C>T (p.Gln14Ter) rs104894194
NM_003977.3(AIP):c.469-1G>A rs267606555
NM_003977.3(AIP):c.542delT (p.Ile182Serfs) rs267606559
NM_003977.3(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.3(AIP):c.66_71delAGGAGA (p.Gly23_Glu24del) rs267606567
NM_003977.3(AIP):c.721A>G (p.Lys241Glu) rs267606573
NM_003977.3(AIP):c.805_825dup (p.His275_Ala276insPheLysArgGlyLysAlaHis) rs267606578
NM_003977.3(AIP):c.807C>T (p.Phe269=) rs139407567
NM_003977.3(AIP):c.811C>T (p.Arg271Trp) rs267606579
NM_003977.3(AIP):c.910C>T (p.Arg304Ter) rs104894195
NM_003977.3(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_003977.4(AIP):c.824dup (p.His275Glnfs) rs267606580
NM_005154.3(USP8):c.[2138T>G;2150A>G]
NM_005154.4(USP8):c.2152T>C (p.Ser718Pro) rs672601307
NM_005154.4(USP8):c.2153C>G (p.Ser718Cys) rs672601308
NM_005154.4(USP8):c.2155_2157delTCC (p.Ser719del) rs672601306
NM_005154.4(USP8):c.2159C>G (p.Pro720Arg) rs672601311
NM_054021.1(GPR101):c.1098C>A (p.Asp366Glu) rs1556379508
NM_054021.1(GPR101):c.924G>C (p.Glu308Asp) rs73637412

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