ClinVar Miner

List of variants in gene PROKR2 reported as likely benign for Kallmann syndrome

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_144773.4(PROKR2):c.802C>T (p.Arg268Cys) rs78861628 0.01447
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_144773.4(PROKR2):c.991G>A (p.Val331Met) rs117106081 0.00088
NM_144773.4(PROKR2):c.390C>T (p.Ser130=) rs144778137 0.00054
NM_144773.4(PROKR2):c.889G>A (p.Val297Ile) rs139399061 0.00039
NM_144773.4(PROKR2):c.156C>T (p.Ala52=) rs775513724 0.00012
NM_144773.4(PROKR2):c.261C>T (p.Leu87=) rs764463888 0.00006
NM_144773.4(PROKR2):c.337T>C (p.Tyr113His) rs202203360 0.00004
NM_144773.4(PROKR2):c.506C>T (p.Thr169Met) rs527771034 0.00003
NM_144773.4(PROKR2):c.809G>A (p.Arg270His) rs146544539 0.00003
NM_144773.4(PROKR2):c.169G>T (p.Gly57Cys) rs201283126 0.00001
NM_144773.4(PROKR2):c.663G>A (p.Lys221=) rs1051636587 0.00001
NM_144773.4(PROKR2):c.1050G>A (p.Leu350=) rs779816527
NM_144773.4(PROKR2):c.1111G>C (p.Gly371Arg) rs201023639
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly) rs141090506
NM_144773.4(PROKR2):c.254G>T (p.Arg85Leu) rs74315418
NM_144773.4(PROKR2):c.525C>A (p.Ala175=) rs3746683
NM_144773.4(PROKR2):c.538G>A (p.Val180Met) rs543677594

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