ClinVar Miner

List of variants in gene LHX3 reported as pathogenic for combined pituitary hormone deficiencies, genetic form

Included ClinVar conditions (28):
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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NC_000009.12:g.(?_136197325)_(136205012_?)del
NM_178138.6(LHX3):c.133A>T (p.Lys45Ter) rs137854506
NM_178138.6(LHX3):c.214C>T (p.Arg72Ter) rs774533927
NM_178138.6(LHX3):c.287_288delinsTCCT (p.Gly96fs) rs137854504
NM_178138.6(LHX3):c.332A>G (p.Tyr111Cys) rs104894117
NM_178138.6(LHX3):c.354C>A (p.Cys118Ter)
NM_178138.6(LHX3):c.452_454+20del rs587776711
NM_178138.6(LHX3):c.629C>T (p.Ala210Val) rs137854503
NM_178138.6(LHX3):c.672G>A (p.Trp224Ter) rs137854505
NM_178138.6(LHX3):c.80-2A>G rs2131036410
NM_178138.6(LHX3):c.80-530_776-454del
NM_178138.6(LHX3):c.96del (p.Gly33fs) rs587776712

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