ClinVar Miner

List of variants reported as uncertain significance for combined pituitary hormone deficiencies, genetic form by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_178138.6(LHX3):c.281A>T (p.Gln94Leu) rs758634719 0.00007
NM_005149.3(TBX19):c.1310C>T (p.Ala437Val) rs147003438 0.00005
NM_005149.3(TBX19):c.916+2T>G rs763382655 0.00001
NM_033343.4(LHX4):c.740A>T (p.Glu247Val) rs766381404 0.00001
NM_003865.3(HESX1):c.200G>A (p.Ser67Asn) rs141863326
NM_005149.3(TBX19):c.562G>A (p.Glu188Lys) rs1159356681
NM_033343.4(LHX4):c.359G>A (p.Cys120Tyr) rs1553282666

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