ClinVar Miner

List of variants in gene NOBOX studied for Premature ovarian failure 5

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001080413.3(NOBOX):c.1155-23G>A rs11769847 0.61167
NM_001080413.3(NOBOX):c.262C>T (p.Leu88=) rs727714 0.60215
NM_001080413.3(NOBOX):c.1154+11T>C rs757388 0.60213
NM_001080413.3(NOBOX):c.1549T>C (p.Phe517Leu) rs2699503 0.58167
NM_001080413.3(NOBOX):c.1240+34G>A rs11769787 0.43881
NM_001080413.3(NOBOX):c.1444G>A (p.Gly482Ser) rs2525702 0.17402
NM_001080413.3(NOBOX):c.42T>C (p.Gly14=) rs1208179 0.12679
NM_001080413.3(NOBOX):c.1796C>A (p.Pro599His) rs1208216 0.12390
NM_001080413.3(NOBOX):c.1991A>G (p.Lys664Arg) rs77802098 0.03031
NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp) rs7800847 0.02403
NM_001080413.3(NOBOX):c.66T>C (p.Asp22=) rs138463368 0.01148
NM_001080413.3(NOBOX):c.1354G>A (p.Asp452Asn) rs112190116 0.00864
NM_001080413.3(NOBOX):c.271G>T (p.Gly91Trp) rs77587352 0.00850
NM_001080413.3(NOBOX):c.1775-8C>A rs149880524 0.00688
NM_001080413.3(NOBOX):c.86-8C>T rs189548165 0.00481
NM_001080413.3(NOBOX):c.131G>T (p.Arg44Leu) rs115206969 0.00480
NM_001080413.3(NOBOX):c.1856C>T (p.Pro619Leu) rs146227301 0.00384
NM_001080413.3(NOBOX):c.454G>A (p.Gly152Arg) rs201806397 0.00316
NM_001080413.3(NOBOX):c.293-15G>A rs200651935 0.00295
NM_001080413.3(NOBOX):c.362C>T (p.Pro121Leu) rs187273709 0.00147
NM_001080413.3(NOBOX):c.1826C>T (p.Pro609Leu) rs115882574 0.00141
NM_001080413.3(NOBOX):c.1849C>T (p.His617Tyr) rs139083352 0.00058
NM_001080413.3(NOBOX):c.210+11C>T rs367904214 0.00056
NM_001080413.3(NOBOX):c.1079G>A (p.Arg360Gln) rs199538689 0.00029
NM_001080413.3(NOBOX):c.1709C>T (p.Ser570Leu) rs371874278 0.00026
NM_001080413.3(NOBOX):c.1698C>T (p.Ser566=) rs374879171 0.00025
NM_001080413.3(NOBOX):c.1469+5G>A rs758913213 0.00018
NM_001080413.3(NOBOX):c.1483C>A (p.Pro495Thr) rs762648490 0.00013
NM_001080413.3(NOBOX):c.1469+13C>T rs376169208 0.00012
NM_001080413.3(NOBOX):c.1938A>G (p.Ser646=) rs116937127 0.00010
NM_001080413.3(NOBOX):c.210+7G>C rs371511426 0.00008
NM_001080413.3(NOBOX):c.1450T>C (p.Cys484Arg) rs376168456 0.00007
NM_001080413.3(NOBOX):c.331G>A (p.Gly111Arg) rs571490209 0.00005
NM_001080413.3(NOBOX):c.1064G>A (p.Arg355His) rs201947677 0.00004
NM_001080413.3(NOBOX):c.1507C>G (p.Leu503Val) rs559175226 0.00004
NM_001080413.3(NOBOX):c.1751T>G (p.Met584Arg) rs886062038 0.00004
NM_001080413.3(NOBOX):c.68G>A (p.Gly23Asp) rs563911669 0.00004
NM_001080413.3(NOBOX):c.908G>A (p.Arg303Gln) rs200423745 0.00004
NM_001080413.3(NOBOX):c.1469+14G>A rs752775856 0.00003
NM_001080413.3(NOBOX):c.1875T>C (p.Phe625=) rs1046041630 0.00003
NM_001080413.3(NOBOX):c.679C>T (p.Arg227Cys) rs762139523 0.00003
NM_001080413.3(NOBOX):c.1031G>A (p.Arg344His) rs533330364 0.00002
NM_001080413.3(NOBOX):c.130C>T (p.Arg44Trp) rs531700272 0.00002
NM_001080413.3(NOBOX):c.1025G>C (p.Ser342Thr) rs193303103 0.00001
NM_001080413.3(NOBOX):c.1447C>G (p.Pro483Ala) rs554506207 0.00001
NM_001080413.3(NOBOX):c.1546C>T (p.Pro516Ser) rs531662858 0.00001
NM_001080413.3(NOBOX):c.1774+11G>A rs749434230 0.00001
NM_001080413.3(NOBOX):c.613A>G (p.Lys205Glu) rs1428500486 0.00001
NM_001080413.3(NOBOX):c.839G>A (p.Arg280His) rs1029551934 0.00001
NM_001080413.3(NOBOX):c.1048-10C>A rs767110478
NM_001080413.3(NOBOX):c.1048G>T (p.Val350Leu) rs193303104
NM_001080413.3(NOBOX):c.1064G>C (p.Arg355Pro) rs201947677
NM_001080413.3(NOBOX):c.1078C>T (p.Arg360Ter) rs1218620893
NM_001080413.3(NOBOX):c.1309del (p.Val437fs)
NM_001080413.3(NOBOX):c.1322C>G (p.Pro441Arg) rs767702371
NM_001080413.3(NOBOX):c.1337C>T (p.Pro446Leu) rs776455519
NM_001080413.3(NOBOX):c.138C>T (p.Tyr46=) rs370043070
NM_001080413.3(NOBOX):c.1797del (p.Cys600fs)
NM_001080413.3(NOBOX):c.1830C>G (p.Phe610Leu) rs2053901501
NM_001080413.3(NOBOX):c.1900C>A (p.Pro634Thr) rs886062037
NM_001080413.3(NOBOX):c.1980C>G (p.Leu660=) rs2053899968
NM_001080413.3(NOBOX):c.211-4G>C rs375312683
NM_001080413.3(NOBOX):c.265G>C (p.Val89Leu) rs182294424
NM_001080413.3(NOBOX):c.362C>G (p.Pro121Arg) rs187273709
NM_001080413.3(NOBOX):c.487C>G (p.Arg163Gly) rs372165690
NM_001080413.3(NOBOX):c.48G>C (p.Trp16Cys) rs1165310774
NM_001080413.3(NOBOX):c.703T>C (p.Cys235Arg) rs760675411
NM_001080413.3(NOBOX):c.85+10T>C rs545826617
NM_001080413.3(NOBOX):c.907C>T (p.Arg303Ter) rs193303102

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.