ClinVar Miner

List of variants in gene AIP reported as pathogenic for Somatotroph adenoma

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) rs104894194 0.00002
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195 0.00001
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.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580

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