ClinVar Miner

List of variants in gene HESX1 reported as uncertain significance for congenital hypogonadotropic hypogonadism

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_003865.2(HESX1):c.-276T>G rs983243 0.00148
NM_003865.3(HESX1):c.525G>A (p.Ala175=) rs141063672 0.00123
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_003865.2(HESX1):c.-230T>A rs549564119 0.00050
NM_003865.3(HESX1):c.460-3T>C rs112703580 0.00021
NM_003865.3(HESX1):c.220G>A (p.Val74Met) rs148422263 0.00014
NM_003865.3(HESX1):c.-6G>A rs368171529 0.00012
NM_003865.3(HESX1):c.326G>A (p.Arg109Gln) rs768165720 0.00011
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala) rs28936704 0.00008
NM_003865.3(HESX1):c.*48G>A rs372550682 0.00005
NM_003865.3(HESX1):c.350A>C (p.Gln117Pro) rs765353265 0.00004
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp) rs770886420 0.00004
NM_003865.3(HESX1):c.479G>A (p.Arg160His) rs766234350 0.00003
NM_003865.3(HESX1):c.11G>A (p.Ser4Asn) rs1332400265 0.00001
NM_003865.3(HESX1):c.124C>T (p.His42Tyr) rs761470587 0.00001
NM_003865.3(HESX1):c.137C>T (p.Ala46Val) rs765587086 0.00001
NM_003865.3(HESX1):c.183T>C (p.His61=) rs374187836 0.00001
NM_003865.3(HESX1):c.18G>C (p.Gln6His) rs121909173 0.00001
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) rs754137696 0.00001
NM_003865.3(HESX1):c.34G>A (p.Gly12Arg) rs375305919 0.00001
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu) rs28936703 0.00001
NM_003865.3(HESX1):c.59C>G (p.Ser20Cys) rs747106663 0.00001
NM_003865.2(HESX1):c.-203_-200delAATT rs886058754
NM_003865.2(HESX1):c.-245delT rs886058755
NM_003865.3(HESX1):c.*192T>A rs886058753
NM_003865.3(HESX1):c.131C>T (p.Pro44Leu)
NM_003865.3(HESX1):c.157+5G>A
NM_003865.3(HESX1):c.158G>A (p.Gly53Glu) rs756899311
NM_003865.3(HESX1):c.163G>A (p.Asp55Asn) rs2060466182
NM_003865.3(HESX1):c.163G>T (p.Asp55Tyr) rs2060466182
NM_003865.3(HESX1):c.200G>A (p.Ser67Asn) rs141863326
NM_003865.3(HESX1):c.200G>C (p.Ser67Thr) rs141863326
NM_003865.3(HESX1):c.218G>A (p.Ser73Asn)
NM_003865.3(HESX1):c.219C>T (p.Ser73=)
NM_003865.3(HESX1):c.224T>G (p.Val75Gly)
NM_003865.3(HESX1):c.25G>A (p.Ala9Thr)
NM_003865.3(HESX1):c.288A>C (p.Arg96Ser)
NM_003865.3(HESX1):c.305A>T (p.Glu102Val)
NM_003865.3(HESX1):c.309G>C (p.Leu103Phe)
NM_003865.3(HESX1):c.316T>A (p.Tyr106Asn)
NM_003865.3(HESX1):c.316T>G (p.Tyr106Asp)
NM_003865.3(HESX1):c.332C>T (p.Pro111Leu)
NM_003865.3(HESX1):c.335G>C (p.Arg112Thr)
NM_003865.3(HESX1):c.354C>G (p.Asn118Lys)
NM_003865.3(HESX1):c.35G>A (p.Gly12Glu)
NM_003865.3(HESX1):c.373_374delinsGG (p.Asn125Gly) rs2107564081
NM_003865.3(HESX1):c.3G>A (p.Met1Ile) rs2107566038
NM_003865.3(HESX1):c.400G>C (p.Gly134Arg) rs2107564014
NM_003865.3(HESX1):c.405C>G (p.Ile135Met) rs190201411
NM_003865.3(HESX1):c.431A>C (p.Lys144Thr)
NM_003865.3(HESX1):c.439C>A (p.Leu147Ile)
NM_003865.3(HESX1):c.450C>G (p.Asp150Glu) rs1385826685
NM_003865.3(HESX1):c.47C>T (p.Pro16Leu)
NM_003865.3(HESX1):c.50C>T (p.Ser17Leu)
NM_003865.3(HESX1):c.68T>C (p.Ile23Thr)

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