ClinVar Miner

List of variants reported as pathogenic for anterior pituitary gland disease by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000949.7(PRLR):c.511C>T (p.Arg171Ter) rs376188691
NM_000949.7(PRLR):c.635A>G (p.His212Arg) rs398122522
NM_000949.7(PRLR):c.806C>T (p.Pro269Leu) rs754974807
NM_001128610.3(USP8):c.2152_2154TCC[1] (p.Ser719del) rs672601306
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly) rs137853226
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) rs104894194
NM_003977.4(AIP):c.469-1G>A rs267606555
NM_003977.4(AIP):c.543del (p.Ile182fs) rs267606559
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) rs267606567
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) rs672601307
NM_005154.5(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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