List of variants in gene ANOS1 studied for Kallmann syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 154

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HGVS	dbSNP	gnomAD frequency
NM_000216.4(ANOS1):c.1600G>A (p.Val534Ile)	rs808119	0.56041
NM_000216.4(ANOS1):c.1833C>T (p.Ile611=)	rs809446	0.55191
NM_000216.4(ANOS1):c.255+4C>T	rs141696314	0.00507
NM_000216.4(ANOS1):c.618G>A (p.Ser206=)	rs147229253	0.00272
NM_000216.4(ANOS1):c.1759G>T (p.Val587Leu)	rs137900287	0.00268
NM_000216.4(ANOS1):c.76G>C (p.Gly26Arg)	rs778437210	0.00218
NM_000216.4(ANOS1):c.1283C>T (p.Pro428Leu)	rs148736113	0.00214
NM_000216.4(ANOS1):c.957G>A (p.Glu319=)	rs190631963	0.00189
NM_000216.4(ANOS1):c.1642C>T (p.Leu548=)	rs77296423	0.00136
NM_000216.4(ANOS1):c.1627G>A (p.Val543Ile)	rs149299309	0.00115
NM_000216.4(ANOS1):c.1532C>A (p.Ser511Tyr)	rs142729431	0.00101
NM_000216.4(ANOS1):c.890G>A (p.Arg297Gln)	rs141239804	0.00085
NM_000216.4(ANOS1):c.214G>A (p.Gly72Ser)	rs186630563	0.00073
NM_000216.4(ANOS1):c.264G>A (p.Glu88=)	rs41304727	0.00064
NM_000216.4(ANOS1):c.911A>G (p.Asn304Ser)	rs140812865	0.00061
NM_000216.4(ANOS1):c.1381C>T (p.Arg461Trp)	rs144709908	0.00051
NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu)	rs137852517	0.00038
NM_000216.4(ANOS1):c.2015A>G (p.His672Arg)	rs199771303	0.00037
NM_000216.4(ANOS1):c.463A>G (p.Asn155Asp)	rs143079588	0.00028
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile)	rs2229013	0.00019
NM_000216.4(ANOS1):c.555G>C (p.Lys185Asn)	rs140670828	0.00019
NM_000216.4(ANOS1):c.1745T>C (p.Met582Thr)	rs368339876	0.00015
NM_000216.4(ANOS1):c.72G>A (p.Ala24=)	rs764457546	0.00015
NM_000216.4(ANOS1):c.906C>T (p.Thr302=)	rs138608216	0.00015
NM_000216.4(ANOS1):c.1699G>A (p.Gly567Ser)	rs142455173	0.00010
NM_000216.4(ANOS1):c.1921G>A (p.Gly641Arg)	rs375767556	0.00009
NM_000216.4(ANOS1):c.1782G>A (p.Thr594=)	rs375373285	0.00008
NM_000216.4(ANOS1):c.98G>C (p.Arg33Pro)	rs746075352	0.00008
NM_000216.4(ANOS1):c.1419C>T (p.Thr473=)	rs781745609	0.00005
NM_000216.4(ANOS1):c.1420G>A (p.Gly474Arg)	rs755569301	0.00005
NM_000216.4(ANOS1):c.404C>T (p.Pro135Leu)	rs1057519373	0.00005
NM_000216.4(ANOS1):c.1932G>A (p.Pro644=)	rs199652310	0.00004
NM_000216.4(ANOS1):c.255+5G>A	rs773138384	0.00004
NM_000216.4(ANOS1):c.723C>A (p.Ala241=)	rs756066919	0.00004
NM_000216.4(ANOS1):c.823A>G (p.Thr275Ala)	rs753666778	0.00004
NM_000216.4(ANOS1):c.1143A>T (p.Gly381=)	rs777132740	0.00002
NM_000216.4(ANOS1):c.409C>G (p.Pro137Ala)	rs1043292415	0.00002
NM_000216.4(ANOS1):c.640C>G (p.Pro214Ala)	rs138050192	0.00002
NM_000216.4(ANOS1):c.1270C>T (p.Arg424Ter)	rs747010865	0.00001
NM_000216.4(ANOS1):c.1536G>A (p.Lys512=)	rs1449749900	0.00001
NM_000216.4(ANOS1):c.1826C>A (p.Ser609Tyr)	rs1374828050	0.00001
NM_000216.4(ANOS1):c.735C>T (p.Asp245=)	rs188939998	0.00001
NC_000023.10:g.(?_8501036)_(8591731_?)del
NC_000023.10:g.(?_8501036)_(8700077_?)del
NC_000023.10:g.(?_8501036)_(8700077_?)dup
NC_000023.10:g.(?_8555815)_(8700097_?)dup
NC_000023.10:g.(?_8667719)_(8700097_?)dup
NC_000023.11:g.(?_8553932)_(8597276_?)dup
NG_007088.2:g.(37490_113516)_(149394_151790)del
NG_007088.2:g.(37490_113516)_(151921_166482)del
NG_007088.2:g.(37490_113516)_(202869_204133)del
NM_000216.4(ANOS1):c.1043G>A (p.Arg348Gln)
NM_000216.4(ANOS1):c.1056G>A (p.Thr352=)
NM_000216.4(ANOS1):c.1062+1G>C
NM_000216.4(ANOS1):c.1062+1G>T	rs387906427
NM_000216.4(ANOS1):c.1062+5G>A	rs2146807050
NM_000216.4(ANOS1):c.1063-1G>C	rs2146805381
NM_000216.4(ANOS1):c.109G>T (p.Glu37Ter)	rs1555904591
NM_000216.4(ANOS1):c.1112T>C (p.Val371Ala)
NM_000216.4(ANOS1):c.1134G>A (p.Thr378=)
NM_000216.4(ANOS1):c.1142del (p.Gly381fs)
NM_000216.4(ANOS1):c.1208-20A>G
NM_000216.4(ANOS1):c.1210G>A (p.Glu404Lys)
NM_000216.4(ANOS1):c.1243C>A (p.Gln415Lys)
NM_000216.4(ANOS1):c.1249C>T (p.Gln417Ter)	rs2146796828
NM_000216.4(ANOS1):c.1250A>G (p.Gln417Arg)
NM_000216.4(ANOS1):c.1267C>T (p.Arg423Ter)	rs1555893221
NM_000216.4(ANOS1):c.1293C>T (p.Val431=)
NM_000216.4(ANOS1):c.1307A>G (p.Tyr436Cys)
NM_000216.4(ANOS1):c.130G>A (p.Val44Ile)
NM_000216.4(ANOS1):c.1311G>A (p.Gln437=)	rs2146796763
NM_000216.4(ANOS1):c.1354+19_1354+22del	rs201866844
NM_000216.4(ANOS1):c.1354+1del	rs764687970
NM_000216.4(ANOS1):c.1355-1G>T
NM_000216.4(ANOS1):c.1369C>T (p.Arg457Ter)	rs727505374
NM_000216.4(ANOS1):c.139G>T (p.Ala47Ser)
NM_000216.4(ANOS1):c.1449+1G>A	rs1601946139
NM_000216.4(ANOS1):c.1449+1G>T
NM_000216.4(ANOS1):c.1449+2del	rs397518425
NM_000216.4(ANOS1):c.1449+8C>A
NM_000216.4(ANOS1):c.145T>C (p.Cys49Arg)	rs1057520209
NM_000216.4(ANOS1):c.1499_1500del (p.Val500fs)
NM_000216.4(ANOS1):c.1511C>T (p.Pro504Leu)
NM_000216.4(ANOS1):c.1516C>T (p.Arg506Trp)
NM_000216.4(ANOS1):c.1539del (p.Glu514fs)	rs1929603954
NM_000216.4(ANOS1):c.1540G>A (p.Glu514Lys)	rs137852515
NM_000216.4(ANOS1):c.158G>A (p.Cys53Tyr)	rs1555904582
NM_000216.4(ANOS1):c.1598C>T (p.Pro533Leu)
NM_000216.4(ANOS1):c.1698C>T (p.Thr566=)
NM_000216.4(ANOS1):c.1699G>C (p.Gly567Arg)
NM_000216.4(ANOS1):c.1704C>A (p.His568Gln)
NM_000216.4(ANOS1):c.171_174dup (p.Thr59fs)	rs1932981715
NM_000216.4(ANOS1):c.171_181del (p.Gln57fs)	rs2146919128
NM_000216.4(ANOS1):c.1736A>G (p.Tyr579Cys)
NM_000216.4(ANOS1):c.1743C>T (p.Pro581=)
NM_000216.4(ANOS1):c.1756C>T (p.Gln586Ter)	rs2146786666
NM_000216.4(ANOS1):c.1766G>A (p.Trp589Ter)	rs2146786648
NM_000216.4(ANOS1):c.1823A>T (p.Gln608Leu)
NM_000216.4(ANOS1):c.1828del (p.Gln610fs)
NM_000216.4(ANOS1):c.1842+412_*1083del
NM_000216.4(ANOS1):c.1852G>A (p.Val618Ile)
NM_000216.4(ANOS1):c.1862dup (p.Pro622fs)	rs2146785809
NM_000216.4(ANOS1):c.1871T>G (p.Leu624Arg)	rs1929555187
NM_000216.4(ANOS1):c.1890_1891delinsTT (p.Arg631Ter)	rs2146785767
NM_000216.4(ANOS1):c.1891C>T (p.Arg631Ter)	rs886039395
NM_000216.4(ANOS1):c.1904A>C (p.Gln635Pro)	rs1057519418
NM_000216.4(ANOS1):c.1908G>A (p.Val636=)	rs1929553838
NM_000216.4(ANOS1):c.1948_1956del (p.Phe650_Thr652del)
NM_000216.4(ANOS1):c.1955C>A (p.Thr652Lys)	rs776867068
NM_000216.4(ANOS1):c.197del (p.Gln66fs)
NM_000216.4(ANOS1):c.1A>G (p.Met1Val)	rs606231409
NM_000216.4(ANOS1):c.1A>T (p.Met1Leu)	rs606231409
NM_000216.4(ANOS1):c.2039A>G (p.Tyr680Cys)	rs2146784839
NM_000216.4(ANOS1):c.203del (p.Phe68fs)	rs2146919105
NM_000216.4(ANOS1):c.207+17G>T
NM_000216.4(ANOS1):c.207G>C (p.Gln69His)
NM_000216.4(ANOS1):c.23_24del (p.Ala8fs)	rs1602050730
NM_000216.4(ANOS1):c.25G>A (p.Val9Ile)
NM_000216.4(ANOS1):c.313del (p.Cys105fs)	rs1601988004
NM_000216.4(ANOS1):c.318+1G>C	rs2146846673
NM_000216.4(ANOS1):c.318+3del	rs2146846669
NM_000216.4(ANOS1):c.319-11C>A
NM_000216.4(ANOS1):c.319-20A>T
NM_000216.4(ANOS1):c.337A>C (p.Ser113Arg)	rs1930756318
NM_000216.4(ANOS1):c.33_34insA (p.Leu12fs)	rs1057520210
NM_000216.4(ANOS1):c.397G>A (p.Asp133Asn)
NM_000216.4(ANOS1):c.422G>A (p.Ser141Asn)	rs932845258
NM_000216.4(ANOS1):c.486A>C (p.Lys162Asn)
NM_000216.4(ANOS1):c.515G>C (p.Cys172Ser)	rs1930749813
NM_000216.4(ANOS1):c.520G>A (p.Val174Ile)
NM_000216.4(ANOS1):c.544_726+2del	rs2146819139
NM_000216.4(ANOS1):c.571C>T (p.Arg191Ter)	rs371599938
NM_000216.4(ANOS1):c.586C>T (p.Gln196Ter)	rs2146819334
NM_000216.4(ANOS1):c.67_92dup (p.Ala32fs)	rs2146919339
NM_000216.4(ANOS1):c.711G>A (p.Trp237Ter)	rs137852512
NM_000216.4(ANOS1):c.726+13T>A
NM_000216.4(ANOS1):c.739C>T (p.Arg247Ter)
NM_000216.4(ANOS1):c.745del (p.Gln249fs)
NM_000216.4(ANOS1):c.769C>T (p.Arg257Ter)	rs137852513
NM_000216.4(ANOS1):c.773G>A (p.Trp258Ter)	rs1601965037
NM_000216.4(ANOS1):c.774G>A (p.Trp258Ter)	rs137852514
NM_000216.4(ANOS1):c.774del (p.Trp258fs)	rs2146817170
NM_000216.4(ANOS1):c.784C>T (p.Arg262Ter)	rs137852516
NM_000216.4(ANOS1):c.814C>T (p.Arg272Ter)	rs1930491968
NM_000216.4(ANOS1):c.831del (p.Ser278fs)	rs2146817110
NM_000216.4(ANOS1):c.834_835del (p.Ser278fs)
NM_000216.4(ANOS1):c.844del (p.Arg282fs)	rs2146817108
NM_000216.4(ANOS1):c.852del (p.Asp286fs)
NM_000216.4(ANOS1):c.857-10G>A	rs1428532575
NM_000216.4(ANOS1):c.874G>A (p.Ala292Thr)	rs2146807313
NM_000216.4(ANOS1):c.937A>G (p.Ile313Val)
NM_000216.4(ANOS1):c.95_105dup (p.Asp36fs)	rs2146919315
NM_000216.4(ANOS1):c.963G>A (p.Pro321=)
Single allele

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