ClinVar Miner

List of variants in gene combination ACBD6, LHX4 reported as pathogenic for combined pituitary hormone deficiencies, genetic form

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_033343.4(LHX4):c.452-2A>C rs786204780 0.00001
NM_033343.4(LHX4):c.1162C>A (p.Pro388Thr) rs121912644
NM_033343.4(LHX4):c.569T>G (p.Leu190Arg) rs121912643
NM_033343.4(LHX4):c.607-1G>C rs748268631
NM_033343.4(LHX4):c.628G>C (p.Ala210Pro) rs121912641

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