ClinVar Miner

List of variants reported as likely pathogenic for Pituitary hormone deficiency, combined 2

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Total variants: 22
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HGVS dbSNP
NM_006261.4(PROP1):c.109+1G>T rs1214465435
NM_006261.4(PROP1):c.110-2A>G rs1057516846
NM_006261.4(PROP1):c.112_124del (p.Ser38fs) rs587776682
NM_006261.4(PROP1):c.156dup (p.Arg53fs) rs1554182514
NM_006261.4(PROP1):c.191dup (p.Arg65fs) rs1554182507
NM_006261.4(PROP1):c.197dup (p.His67fs) rs1057517424
NM_006261.4(PROP1):c.274C>T (p.Gln92Ter) rs794726693
NM_006261.4(PROP1):c.288_289del (p.Ile96fs) rs1057516832
NM_006261.4(PROP1):c.2T>C (p.Met1Thr) rs1554182645
NM_006261.4(PROP1):c.310del (p.Arg104fs) rs786204663
NM_006261.4(PROP1):c.334C>T (p.Arg112Ter) rs766673446
NM_006261.4(PROP1):c.340C>T (p.Gln114Ter) rs1554182481
NM_006261.4(PROP1):c.342+1G>A rs1436089021
NM_006261.4(PROP1):c.343-2A>T rs1057517041
NM_006261.4(PROP1):c.349T>A (p.Phe117Ile) rs121917840
NM_006261.4(PROP1):c.358C>T (p.Arg120Cys) rs121917839
NM_006261.4(PROP1):c.390_391del (p.Leu131fs) rs1057517027
NM_006261.4(PROP1):c.3G>C (p.Met1Ile) rs1064797071
NM_006261.4(PROP1):c.557del (p.Ala186fs) rs762529663
NM_006261.4(PROP1):c.582G>A (p.Trp194Ter) rs121917845
NM_006261.5(PROP1):c.386_387dup (p.Ser130fs) rs1554182405
NM_006261.5(PROP1):c.74_75dup (p.His26fs) rs1554182632

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