ClinVar Miner

List of variants studied for Hypogonadotropic hypogonadism 3 with or without anosmia by Fulgent Genetics, Fulgent Genetics

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_144773.4(PROKR2):c.1122C>A (p.Thr374=) rs76469093 0.00220
NM_144773.4(PROKR2):c.390C>T (p.Ser130=) rs144778137 0.00054
NM_144773.4(PROKR2):c.604A>G (p.Ser202Gly) rs200755554 0.00021
NM_144773.4(PROKR2):c.376G>A (p.Val126Met) rs200048973 0.00014
NM_144773.4(PROKR2):c.156C>T (p.Ala52=) rs775513724 0.00012
NM_144773.4(PROKR2):c.201C>T (p.Cys67=) rs201898089 0.00012
NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser) rs149992595 0.00010
NM_144773.4(PROKR2):c.491G>A (p.Arg164Gln) rs751875578 0.00009
NM_144773.4(PROKR2):c.743G>A (p.Arg248Gln) rs376142095 0.00009
NM_144773.4(PROKR2):c.472G>A (p.Val158Ile) rs368732206 0.00008
NM_144773.4(PROKR2):c.1058G>A (p.Arg353His) rs576243101 0.00007
NM_144773.4(PROKR2):c.337T>C (p.Tyr113His) rs202203360 0.00007
NM_144773.4(PROKR2):c.349C>T (p.Arg117Trp) rs142008002 0.00006
NM_144773.4(PROKR2):c.308C>T (p.Ala103Val) rs775634673 0.00005
NM_144773.4(PROKR2):c.742C>T (p.Arg248Trp) rs483352766 0.00004
NM_144773.4(PROKR2):c.803G>A (p.Arg268His) rs781065670 0.00004
NM_144773.4(PROKR2):c.466G>A (p.Ala156Thr) rs200887188 0.00003
NM_144773.4(PROKR2):c.809G>A (p.Arg270His) rs146544539 0.00003
NM_144773.4(PROKR2):c.1000G>A (p.Val334Met) rs371564610 0.00002
NM_144773.4(PROKR2):c.1004C>T (p.Thr335Met) rs755562438 0.00002
NM_144773.4(PROKR2):c.537G>A (p.Met179Ile) rs770233566 0.00002
NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu) rs376239580 0.00002
NM_144773.4(PROKR2):c.728A>G (p.Tyr243Cys) rs921084722 0.00002
NM_144773.4(PROKR2):c.1050G>A (p.Leu350=) rs779816527 0.00001
NM_144773.4(PROKR2):c.1056G>A (p.Trp352Ter) rs745562390 0.00001
NM_144773.4(PROKR2):c.208G>A (p.Gly70Ser) rs764674615 0.00001
NM_144773.4(PROKR2):c.343G>A (p.Val115Met) rs138672528 0.00001
NM_144773.4(PROKR2):c.629A>G (p.Gln210Arg) rs74315417 0.00001
NM_144773.4(PROKR2):c.663G>A (p.Lys221=) rs1051636587 0.00001
NM_144773.4(PROKR2):c.955G>A (p.Glu319Lys) rs754796297 0.00001
NM_144773.4(PROKR2):c.100G>A (p.Asp34Asn)
NM_144773.4(PROKR2):c.1010dup (p.Asn338fs)
NM_144773.4(PROKR2):c.1025A>G (p.Lys342Arg)
NM_144773.4(PROKR2):c.1042A>C (p.Met348Leu) rs368145317
NM_144773.4(PROKR2):c.1069C>G (p.Arg357Gly)
NM_144773.4(PROKR2):c.1091A>G (p.Asp364Gly)
NM_144773.4(PROKR2):c.1106C>T (p.Thr369Ile)
NM_144773.4(PROKR2):c.1111G>A (p.Gly371Arg) rs201023639
NM_144773.4(PROKR2):c.1111G>C (p.Gly371Arg) rs201023639
NM_144773.4(PROKR2):c.1131_1136del (p.Glu377_Val378del)
NM_144773.4(PROKR2):c.1154G>T (p.Ter385Leu)
NM_144773.4(PROKR2):c.208G>T (p.Gly70Cys)
NM_144773.4(PROKR2):c.229G>A (p.Ala77Thr)
NM_144773.4(PROKR2):c.239G>T (p.Arg80Leu)
NM_144773.4(PROKR2):c.242A>G (p.Tyr81Cys)
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly) rs141090506
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys) rs141090506
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_144773.4(PROKR2):c.254G>T (p.Arg85Leu) rs74315418
NM_144773.4(PROKR2):c.278C>T (p.Ala93Val)
NM_144773.4(PROKR2):c.295G>A (p.Asp99Asn)
NM_144773.4(PROKR2):c.324del (p.Phe109fs)
NM_144773.4(PROKR2):c.328G>A (p.Glu110Lys) rs756998275
NM_144773.4(PROKR2):c.385G>A (p.Ala129Thr)
NM_144773.4(PROKR2):c.404G>C (p.Arg135Pro)
NM_144773.4(PROKR2):c.410T>C (p.Val137Ala)
NM_144773.4(PROKR2):c.525C>A (p.Ala175=) rs3746683
NM_144773.4(PROKR2):c.538G>A (p.Val180Met) rs543677594
NM_144773.4(PROKR2):c.551T>C (p.Ile184Thr)
NM_144773.4(PROKR2):c.584C>T (p.Thr195Met)
NM_144773.4(PROKR2):c.586G>A (p.Val196Ile)
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_144773.4(PROKR2):c.606C>G (p.Ser202Arg)
NM_144773.4(PROKR2):c.676T>G (p.Phe226Val)
NM_144773.4(PROKR2):c.685G>C (p.Gly229Arg) rs1600577387
NM_144773.4(PROKR2):c.70C>T (p.Leu24Phe)
NM_144773.4(PROKR2):c.75C>T (p.Ser25=)
NM_144773.4(PROKR2):c.790C>T (p.Arg264Cys)
NM_144773.4(PROKR2):c.796C>T (p.Arg266Trp)
NM_144773.4(PROKR2):c.808C>T (p.Arg270Cys)
NM_144773.4(PROKR2):c.823C>A (p.Leu275Met)
NM_144773.4(PROKR2):c.834G>A (p.Met278Ile)
NM_144773.4(PROKR2):c.877G>A (p.Gly293Ser)
NM_144773.4(PROKR2):c.892C>T (p.Arg298Cys)
NM_144773.4(PROKR2):c.902T>A (p.Phe301Tyr)
NM_144773.4(PROKR2):c.916G>A (p.Val306Met)
NM_144773.4(PROKR2):c.916G>T (p.Val306Leu)
NM_144773.4(PROKR2):c.935T>C (p.Leu312Pro)
NM_144773.4(PROKR2):c.940G>A (p.Ala314Thr)
NM_144773.4(PROKR2):c.948C>G (p.Tyr316Ter) rs1979019949
NM_144773.4(PROKR2):c.949G>A (p.Val317Met)

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