ClinVar Miner

List of variants studied for combined pituitary hormone deficiencies, genetic form by Institute of Human Genetics, University of Leipzig Medical Center

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_000515.5(GH1):c.217A>G (p.Asn73Asp) rs71640276 0.00027
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_000515.5(GH1):c.502A>T (p.Thr168Ser) rs771280061 0.00001
NM_000306.4(POU1F1):c.143-64T>G rs1064796954
NM_000515.5(GH1):c.452T>C (p.Met151Thr) rs1180054712
NM_000515.5(GH1):c.59G>A (p.Trp20Ter) rs137853219
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_033343.4(LHX4):c.602T>C (p.Val201Ala) rs1648658489

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