ClinVar Miner

List of variants in gene PROP1 reported as likely benign 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: 12
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HGVS dbSNP gnomAD frequency
NM_006261.5(PROP1):c.174G>A (p.Pro58=) rs2233784 0.02188
NM_006261.5(PROP1):c.425C>T (p.Ala142Val) rs143790367 0.00193
NM_006261.5(PROP1):c.471C>T (p.Tyr157=) rs145883811 0.00124
NM_006261.5(PROP1):c.96G>A (p.Pro32=) rs144314831 0.00019
NM_006261.5(PROP1):c.385C>T (p.Arg129Cys) rs140207251 0.00018
NM_006261.5(PROP1):c.311G>A (p.Arg104Gln) rs369390421 0.00010
NM_006261.5(PROP1):c.81G>A (p.Pro27=) rs749312622 0.00008
NM_006261.5(PROP1):c.153G>C (p.Gly51=) rs555891165 0.00003
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser) rs775353413 0.00002
NM_006261.5(PROP1):c.456T>C (p.Ala152=) rs758911793 0.00001
NM_006261.5(PROP1):c.609C>T (p.Ala203=) rs751079956
NM_006261.5(PROP1):c.66G>A (p.Leu22=) rs1582664807

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