ClinVar Miner

List of variants in gene NOBOX studied for reproductive system disorder

Included ClinVar conditions (663):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
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.1155-23G>A rs11769847 0.60213
NM_001080413.3(NOBOX):c.1549T>C (p.Phe517Leu) rs2699503 0.58167
NM_001080413.3(NOBOX):c.1240+34G>A rs11769787 0.42719
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.131G>T (p.Arg44Leu) rs115206969 0.00497
NM_001080413.3(NOBOX):c.86-8C>T rs189548165 0.00481
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 0.00298
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.210+11C>T rs367904214 0.00061
NM_001080413.3(NOBOX):c.1849C>T (p.His617Tyr) rs139083352 0.00058
NM_001080413.3(NOBOX):c.1079G>A (p.Arg360Gln) rs199538689 0.00030
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 0.00018
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.1450T>C (p.Cys484Arg) rs376168456 0.00007
NM_001080413.3(NOBOX):c.210+7G>C rs371511426 0.00006
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.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.1440G>C (p.Lys480Asn) rs1006463439 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.1900C>A (p.Pro634Thr) rs886062037 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)
NM_001080413.3(NOBOX):c.138C>T (p.Tyr46=) rs370043070
NM_001080413.3(NOBOX):c.1830C>G (p.Phe610Leu) rs2053901501
NM_001080413.3(NOBOX):c.1875T>C (p.Phe625=) rs1046041630
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.331G>A (p.Gly111Arg)
NM_001080413.3(NOBOX):c.362C>G (p.Pro121Arg) rs187273709
NM_001080413.3(NOBOX):c.48G>C (p.Trp16Cys)
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

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