ClinVar Miner

List of variants reported as not provided for combined pituitary hormone deficiencies, genetic form

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_033343.4(LHX4):c.1052C>T (p.Thr351Met) rs200119009 0.00019
NM_000306.4(POU1F1):c.40C>G (p.Pro14Ala) rs200873915 0.00010
NM_006261.5(PROP1):c.150del (p.Arg53fs) rs587776683 0.00006
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_006261.5(PROP1):c.112_124del (p.Ser38fs) rs587776682
NM_006261.5(PROP1):c.263T>C (p.Phe88Ser) rs121917841
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688

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