ClinVar Miner

List of variants in gene PROP1 studied for combined pituitary hormone deficiencies, genetic form

Included ClinVar conditions (28):
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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_006261.5(PROP1):c.59A>G (p.Asn20Ser) rs7445271 0.99976
NM_006261.5(PROP1):c.109+3G>A rs4072924 0.54780
NM_006261.5(PROP1):c.27T>C (p.Ala9=) rs1135320 0.41718
NM_006261.5(PROP1):c.-210A>C rs13187293 0.30465
NM_006261.5(PROP1):c.*354G>A rs4604209 0.24860
NM_006261.5(PROP1):c.424G>A (p.Ala142Thr) rs1800197 0.22589
NM_006261.5(PROP1):c.*123T>C rs2233788 0.07976
NM_006261.5(PROP1):c.109+435G>A rs73346254 0.06917
NM_006261.5(PROP1):c.174G>A (p.Pro58=) rs2233784 0.02188
NM_006261.5(PROP1):c.*419C>T rs116225539 0.02154
NM_006261.5(PROP1):c.*52G>A rs2233787 0.00828
NM_006261.5(PROP1):c.-302G>A rs150629697 0.00525
NM_006261.5(PROP1):c.630A>C (p.Pro210=) rs535993919 0.00212
NM_006261.5(PROP1):c.425C>T (p.Ala142Val) rs143790367 0.00193
NM_006261.5(PROP1):c.534G>A (p.Gln178=) rs73807328 0.00181
NM_006261.5(PROP1):c.471C>T (p.Tyr157=) rs145883811 0.00123
NM_006261.5(PROP1):c.*468C>T rs886060473 0.00033
NM_006261.5(PROP1):c.335G>A (p.Arg112Gln) rs201266211 0.00026
NM_006261.5(PROP1):c.110-8G>A rs377698903 0.00024
NM_006261.5(PROP1):c.96G>A (p.Pro32=) rs144314831 0.00019
NM_006261.5(PROP1):c.385C>T (p.Arg129Cys) rs140207251 0.00016
NM_006261.5(PROP1):c.303T>C (p.Ser101=) rs114584451 0.00013
NM_006261.5(PROP1):c.46C>G (p.Arg16Gly) rs140016178 0.00011
NM_006261.5(PROP1):c.311G>A (p.Arg104Gln) rs369390421 0.00010
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) rs121917840 0.00010
NM_006261.5(PROP1):c.81G>A (p.Pro27=) rs749312622 0.00008
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.624C>T (p.Cys208=) rs761651134 0.00005
NM_006261.5(PROP1):c.*37C>T rs749918250 0.00004
NM_006261.5(PROP1):c.-160C>T rs1025842722 0.00004
NM_006261.5(PROP1):c.197C>T (p.Pro66Leu) rs764154376 0.00004
NM_006261.5(PROP1):c.359G>A (p.Arg120His) rs769171020 0.00004
NM_006261.5(PROP1):c.153G>C (p.Gly51=) rs555891165 0.00003
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys) rs121917843 0.00003
NM_006261.5(PROP1):c.295C>T (p.Arg99Ter) rs121917844 0.00003
NM_006261.5(PROP1):c.234A>G (p.Pro78=) rs533923552 0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp) rs146918863 0.00002
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser) rs775353413 0.00002
NM_006261.5(PROP1):c.*434T>A rs1772656639 0.00001
NM_006261.5(PROP1):c.109+13C>T rs759210335 0.00001
NM_006261.5(PROP1):c.110-2A>G rs1057516846 0.00001
NM_006261.5(PROP1):c.156G>A (p.Gly52=) rs781247441 0.00001
NM_006261.5(PROP1):c.211C>T (p.Arg71Cys) rs758285552 0.00001
NM_006261.5(PROP1):c.218G>A (p.Arg73His) rs121917842 0.00001
NM_006261.5(PROP1):c.249G>A (p.Gln83=) rs373160119 0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter) rs766673446 0.00001
NM_006261.5(PROP1):c.456T>C (p.Ala152=) rs758911793 0.00001
NM_006261.5(PROP1):c.557del (p.Ala186fs) rs762529663 0.00001
NM_006261.5(PROP1):c.592T>C (p.Leu198=) rs780774091 0.00001
NM_006261.5(PROP1):c.63del (p.Leu22fs) rs780134343 0.00001
NM_006261.5(PROP1):c.-260A>T rs886060476
NM_006261.5(PROP1):c.109+1G>A rs1214465435
NM_006261.5(PROP1):c.109+1G>T rs1214465435
NM_006261.5(PROP1):c.112_124del (p.Ser38fs) rs587776682
NM_006261.5(PROP1):c.112dup (p.Ser38fs) rs2480288505
NM_006261.5(PROP1):c.114delinsCACCGTTCTGCAGTGCTCTCTCCGTTCTGC (p.Ser39fs)
NM_006261.5(PROP1):c.129dup (p.Arg44fs) rs2113064591
NM_006261.5(PROP1):c.131G>A (p.Arg44Lys) rs1755702883
NM_006261.5(PROP1):c.150_151del (p.Gly52fs) rs587776681
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_006261.5(PROP1):c.152G>T (p.Gly51Val) rs2233783
NM_006261.5(PROP1):c.156dup (p.Arg53fs) rs1554182514
NM_006261.5(PROP1):c.191dup (p.Arg65fs) rs1554182507
NM_006261.5(PROP1):c.197dup (p.His67fs) rs1057517424
NM_006261.5(PROP1):c.20_22dup (p.Arg7dup) rs1554182643
NM_006261.5(PROP1):c.263T>C (p.Phe88Ser) rs121917841
NM_006261.5(PROP1):c.274C>T (p.Gln92Ter) rs794726693
NM_006261.5(PROP1):c.276G>C (p.Gln92His)
NM_006261.5(PROP1):c.288_289del (p.Ile96fs) rs1057516832
NM_006261.5(PROP1):c.2T>C (p.Met1Thr) rs1554182645
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006261.5(PROP1):c.310del (p.Arg104fs) rs786204663
NM_006261.5(PROP1):c.340C>A (p.Gln114Lys) rs1554182481
NM_006261.5(PROP1):c.340C>T (p.Gln114Ter) rs1554182481
NM_006261.5(PROP1):c.342+1G>A rs1436089021
NM_006261.5(PROP1):c.343-1G>A rs2480285098
NM_006261.5(PROP1):c.343-2A>T rs1057517041
NM_006261.5(PROP1):c.379C>A (p.Gln127Lys)
NM_006261.5(PROP1):c.37AAG[1] (p.Lys14del) rs1554182637
NM_006261.5(PROP1):c.386_387dup (p.Ser130fs) rs1554182405
NM_006261.5(PROP1):c.390_391del (p.Leu131fs) rs1057517027
NM_006261.5(PROP1):c.397C>T (p.Gln133Ter) rs2480284872
NM_006261.5(PROP1):c.3G>C (p.Met1Ile) rs1064797071
NM_006261.5(PROP1):c.46C>T (p.Arg16Ter) rs140016178
NM_006261.5(PROP1):c.472G>A (p.Ala158Thr)
NM_006261.5(PROP1):c.51C>G (p.Val17=) rs760446926
NM_006261.5(PROP1):c.546del (p.Gly183fs) rs2480284329
NM_006261.5(PROP1):c.568C>T (p.Gln190Ter) rs2480284225
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter) rs121917845
NM_006261.5(PROP1):c.609C>T (p.Ala203=) rs751079956
NM_006261.5(PROP1):c.611del (p.Gly204fs) rs1554182368
NM_006261.5(PROP1):c.618G>A (p.Leu206=) rs765098843
NM_006261.5(PROP1):c.629del (p.Pro210fs) rs761018422
NM_006261.5(PROP1):c.629dup (p.Pro211fs) rs761018422
NM_006261.5(PROP1):c.652dup (p.Ser218fs) rs1554182363
NM_006261.5(PROP1):c.66G>A (p.Leu22=) rs1582664807
NM_006261.5(PROP1):c.74_75dup (p.His26fs) rs1554182632
NM_006261.5(PROP1):c.95del (p.Pro32fs) rs2480292680

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