ClinVar Miner

List of variants in gene PROP1 reported as uncertain significance for congenital hypogonadotropic hypogonadism

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_006261.5(PROP1):c.*52G>A rs2233787 0.00869
NM_006261.5(PROP1):c.-302G>A rs150629697 0.00555
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 0.00184
NM_006261.5(PROP1):c.471C>T (p.Tyr157=) rs145883811 0.00124
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.234A>G (p.Pro78=) rs533923552 0.00013
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.*37C>T rs749918250 0.00005
NM_006261.5(PROP1):c.624C>T (p.Cys208=) rs761651134 0.00005
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.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.109+13C>T rs759210335 0.00001
NM_006261.5(PROP1):c.156G>A (p.Gly52=) rs781247441 0.00001
NM_006261.5(PROP1):c.249G>A (p.Gln83=) rs373160119 0.00001
NM_006261.5(PROP1):c.*434T>A rs1772656639
NM_006261.5(PROP1):c.-260A>T rs886060476
NM_006261.5(PROP1):c.131G>A (p.Arg44Lys) rs1755702883
NM_006261.5(PROP1):c.152G>T (p.Gly51Val) rs2233783
NM_006261.5(PROP1):c.20_22dup (p.Arg7dup) rs1554182643
NM_006261.5(PROP1):c.340C>A (p.Gln114Lys) rs1554182481
NM_006261.5(PROP1):c.37AAG[1] (p.Lys14del) rs1554182637
NM_006261.5(PROP1):c.51C>G (p.Val17=) rs760446926
NM_006261.5(PROP1):c.592T>C (p.Leu198=) rs780774091
NM_006261.5(PROP1):c.611del (p.Gly204fs) rs1554182368
NM_006261.5(PROP1):c.618G>A (p.Leu206=) rs765098843
NM_006261.5(PROP1):c.623dup (p.Cys208fs) rs886060474
NM_006261.5(PROP1):c.629dup (p.Pro211fs) rs761018422
NM_006261.5(PROP1):c.652dup (p.Ser218fs) rs1554182363

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