List of variants reported as likely benign for Alkaptonuria

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 176

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HGVS	dbSNP	gnomAD frequency
NM_000187.4(HGD):c.1221G>A (p.Ala407=)	rs146206905	0.01639
NM_000187.4(HGD):c.142G>T (p.Ala48Ser)	rs138846036	0.01021
NM_000187.4(HGD):c.1179T>C (p.Asp393=)	rs146482816	0.00886
NM_000187.4(HGD):c.711C>A (p.Arg237=)	rs147204182	0.00302
NM_000187.4(HGD):c.129G>A (p.Gln43=)	rs142789485	0.00165
NM_000187.4(HGD):c.919C>T (p.Arg307Cys)	rs143556739	0.00124
NM_000187.4(HGD):c.1128C>G (p.Asp376Glu)	rs150145204	0.00060
NM_000187.4(HGD):c.221A>T (p.Glu74Val)	rs141965690	0.00027
NM_000187.4(HGD):c.1176C>T (p.Ala392=)	rs368805723	0.00013
NM_000187.4(HGD):c.231C>T (p.Asp77=)	rs147017317	0.00013
NM_000187.4(HGD):c.141G>A (p.Ser47=)	rs541268108	0.00011
NM_000187.4(HGD):c.111C>T (p.Tyr37=)	rs772792095	0.00010
NM_000187.4(HGD):c.1080G>A (p.Gly360=)	rs752713602	0.00009
NM_000187.4(HGD):c.1206A>G (p.Ser402=)	rs140500816	0.00009
NM_000187.4(HGD):c.993T>C (p.Pro331=)	rs747288180	0.00009
NM_000187.4(HGD):c.501C>T (p.Thr167=)	rs146878140	0.00006
NM_000187.4(HGD):c.550-14G>C	rs769000073	0.00006
NM_000187.4(HGD):c.786G>A (p.Pro262=)	rs747648606	0.00006
NM_000187.4(HGD):c.396T>A (p.Ala132=)	rs768585616	0.00005
NM_000187.4(HGD):c.1027A>C (p.Met343Leu)	rs755078457	0.00004
NM_000187.4(HGD):c.177-5T>C	rs768308376	0.00004
NM_000187.4(HGD):c.24T>C (p.Ser8=)	rs745386219	0.00004
NM_000187.4(HGD):c.6T>A (p.Ala2=)	rs1308413187	0.00004
NM_000187.4(HGD):c.807C>T (p.His269=)	rs758567130	0.00004
NM_000187.4(HGD):c.477G>A (p.Gln159=)	rs1351109217	0.00003
NM_000187.4(HGD):c.765T>C (p.Ala255=)	rs747764475	0.00003
NM_000187.4(HGD):c.1305T>C (p.Thr435=)	rs571129573	0.00002
NM_000187.4(HGD):c.732G>A (p.Thr244=)	rs769516009	0.00002
NM_000187.4(HGD):c.1107C>A (p.Thr369=)	rs1165278353	0.00001
NM_000187.4(HGD):c.1110C>A (p.Pro370=)	rs760307527	0.00001
NM_000187.4(HGD):c.120T>C (p.Tyr40=)	rs369064890	0.00001
NM_000187.4(HGD):c.1335T>C (p.Asn445=)	rs187614203	0.00001
NM_000187.4(HGD):c.168T>C (p.Asn56=)	rs773277281	0.00001
NM_000187.4(HGD):c.27A>T (p.Gly9=)	rs780784207	0.00001
NM_000187.4(HGD):c.288A>G (p.Arg96=)	rs776344570	0.00001
NM_000187.4(HGD):c.307C>A (p.Pro103Thr)	rs559502955	0.00001
NM_000187.4(HGD):c.327A>G (p.Lys109=)	rs774514092	0.00001
NM_000187.4(HGD):c.343-5C>T	rs779590565	0.00001
NM_000187.4(HGD):c.390G>T (p.Gly130=)	rs774183442	0.00001
NM_000187.4(HGD):c.540C>T (p.Cys180=)	rs1447439273	0.00001
NM_000187.4(HGD):c.561G>A (p.Arg187=)	rs1436826620	0.00001
NM_000187.4(HGD):c.612T>C (p.Tyr204=)	rs765182260	0.00001
NM_000187.4(HGD):c.682T>C (p.Leu228=)	rs1282585373	0.00001
NM_000187.4(HGD):c.702T>C (p.Tyr234=)	rs771518151	0.00001
NM_000187.4(HGD):c.810G>A (p.Gly270=)	rs1940985320	0.00001
NM_000187.4(HGD):c.816T>C (p.Tyr272=)	rs1036188406	0.00001
NM_000187.4(HGD):c.834C>T (p.Asn278=)	rs1194280787	0.00001
NM_000187.4(HGD):c.879+9G>T	rs915477284	0.00001
NM_000187.4(HGD):c.880-5C>T	rs746239685	0.00001
NM_000187.4(HGD):c.912G>A (p.Lys304=)	rs1189623213	0.00001
NM_000187.4(HGD):c.915T>C (p.Ser305=)	rs144158342	0.00001
NM_000187.4(HGD):c.1006+9C>T
NM_000187.4(HGD):c.1007-18C>T
NM_000187.4(HGD):c.1007-3del	rs1261269370
NM_000187.4(HGD):c.1068G>A (p.Gly356=)	rs1940648400
NM_000187.4(HGD):c.1080G>C (p.Gly360=)	rs752713602
NM_000187.4(HGD):c.1097G>A (p.Ser366Asn)
NM_000187.4(HGD):c.1098C>T (p.Ser366=)
NM_000187.4(HGD):c.1110C>T (p.Pro370=)
NM_000187.4(HGD):c.1188+7A>T
NM_000187.4(HGD):c.1188+8T>C	rs1940642048
NM_000187.4(HGD):c.1189-14G>A
NM_000187.4(HGD):c.1189-20C>G
NM_000187.4(HGD):c.1189-8T>A	rs2107483848
NM_000187.4(HGD):c.1191A>G (p.Ala397=)
NM_000187.4(HGD):c.1230G>A (p.Lys410=)
NM_000187.4(HGD):c.1242G>A (p.Lys414=)
NM_000187.4(HGD):c.1248C>T (p.Ser416=)	rs2107483728
NM_000187.4(HGD):c.1249A>C (p.Arg417=)
NM_000187.4(HGD):c.1275G>A (p.Lys425=)
NM_000187.4(HGD):c.1287A>T (p.Pro429=)	rs2107483639
NM_000187.4(HGD):c.1290C>T (p.Leu430=)	rs2107483622
NM_000187.4(HGD):c.1299C>T (p.His433=)	rs2107483607
NM_000187.4(HGD):c.1314C>T (p.Ser438=)
NM_000187.4(HGD):c.1320C>T (p.Asn440=)
NM_000187.4(HGD):c.132C>T (p.Leu44=)	rs1413985635
NM_000187.4(HGD):c.1332T>C (p.Pro444=)
NM_000187.4(HGD):c.15+15G>A
NM_000187.4(HGD):c.15+16A>T
NM_000187.4(HGD):c.15+8del	rs771784891
NM_000187.4(HGD):c.165C>T (p.Thr55=)
NM_000187.4(HGD):c.176+13G>C
NM_000187.4(HGD):c.176+14A>T
NM_000187.4(HGD):c.177-14_177-11del
NM_000187.4(HGD):c.177-16A>G
NM_000187.4(HGD):c.177-17T>C
NM_000187.4(HGD):c.177-18G>C
NM_000187.4(HGD):c.177-19T>C
NM_000187.4(HGD):c.177-4C>T
NM_000187.4(HGD):c.177-9T>C	rs2107548928
NM_000187.4(HGD):c.186T>C (p.Tyr62=)
NM_000187.4(HGD):c.18C>T (p.Tyr6=)	rs769728875
NM_000187.4(HGD):c.198T>C (p.Pro66=)	rs2107548808
NM_000187.4(HGD):c.210C>T (p.His70=)
NM_000187.4(HGD):c.216C>T (p.Pro72=)
NM_000187.4(HGD):c.225C>T (p.Ser75=)	rs2107548752
NM_000187.4(HGD):c.228T>C (p.Ile76=)	rs2107548724
NM_000187.4(HGD):c.237C>T (p.Gly79=)
NM_000187.4(HGD):c.243C>T (p.Val81=)	rs377043265
NM_000187.4(HGD):c.279C>T (p.Asn93=)
NM_000187.4(HGD):c.282+11C>T
NM_000187.4(HGD):c.283-13A>T
NM_000187.4(HGD):c.283-18T>C
NM_000187.4(HGD):c.283-20T>C
NM_000187.4(HGD):c.283-5del	rs777429123
NM_000187.4(HGD):c.33G>C (p.Gly11=)	rs886415775
NM_000187.4(HGD):c.342+15T>A
NM_000187.4(HGD):c.342+16_342+17del
NM_000187.4(HGD):c.342+19C>T
NM_000187.4(HGD):c.342+20A>G
NM_000187.4(HGD):c.342+9G>T	rs1941376798
NM_000187.4(HGD):c.343-11G>T
NM_000187.4(HGD):c.343-11del
NM_000187.4(HGD):c.343-20_343-19del
NM_000187.4(HGD):c.343-6T>A	rs753344566
NM_000187.4(HGD):c.375A>T (p.Ile125=)
NM_000187.4(HGD):c.420C>T (p.Thr140=)
NM_000187.4(HGD):c.434+12A>G
NM_000187.4(HGD):c.434+13G>C
NM_000187.4(HGD):c.434+14T>C
NM_000187.4(HGD):c.434+19G>A
NM_000187.4(HGD):c.434+19G>T
NM_000187.4(HGD):c.434+20G>A
NM_000187.4(HGD):c.469+15C>G
NM_000187.4(HGD):c.470-11T>G
NM_000187.4(HGD):c.470-18C>T
NM_000187.4(HGD):c.470-5G>A	rs980173157
NM_000187.4(HGD):c.474G>A (p.Pro158=)	rs2293734
NM_000187.4(HGD):c.474G>T (p.Pro158=)	rs2293734
NM_000187.4(HGD):c.480A>G (p.Lys160=)
NM_000187.4(HGD):c.525G>A (p.Gln175=)
NM_000187.4(HGD):c.550-7A>C
NM_000187.4(HGD):c.550-9C>A
NM_000187.4(HGD):c.559C>A (p.Arg187=)	rs756255206
NM_000187.4(HGD):c.57T>G (p.Pro19=)
NM_000187.4(HGD):c.624T>C (p.Phe208=)	rs1576295648
NM_000187.4(HGD):c.633T>C (p.Pro211=)
NM_000187.4(HGD):c.649+13T>C
NM_000187.4(HGD):c.649+13T>G
NM_000187.4(HGD):c.649+18G>A
NM_000187.4(HGD):c.660C>G (p.Gly220=)
NM_000187.4(HGD):c.663G>A (p.Leu221=)	rs755921083
NM_000187.4(HGD):c.666C>G (p.Ala222=)
NM_000187.4(HGD):c.672T>C (p.Pro224=)
NM_000187.4(HGD):c.684G>A (p.Leu228=)
NM_000187.4(HGD):c.714A>G (p.Gln238=)	rs1194507329
NM_000187.4(HGD):c.717A>T (p.Val239=)
NM_000187.4(HGD):c.735C>T (p.Val245=)
NM_000187.4(HGD):c.756G>A (p.Lys252=)
NM_000187.4(HGD):c.774+17G>C
NM_000187.4(HGD):c.774+20A>C
NM_000187.4(HGD):c.774+7T>C
NM_000187.4(HGD):c.775-15G>A
NM_000187.4(HGD):c.775-15G>T
NM_000187.4(HGD):c.792T>C (p.Asn264=)	rs2107502799
NM_000187.4(HGD):c.831C>T (p.Tyr277=)	rs1940984085
NM_000187.4(HGD):c.852T>C (p.Val284=)
NM_000187.4(HGD):c.87+13A>G
NM_000187.4(HGD):c.87+7G>A	rs1576319604
NM_000187.4(HGD):c.87+8C>T
NM_000187.4(HGD):c.879+14C>T
NM_000187.4(HGD):c.879+14del
NM_000187.4(HGD):c.879+9G>A	rs915477284
NM_000187.4(HGD):c.88-20T>A
NM_000187.4(HGD):c.88-7G>T	rs759234521
NM_000187.4(HGD):c.880-20C>A
NM_000187.4(HGD):c.880-23_880-18del
NM_000187.4(HGD):c.880-4A>G	rs781667761
NM_000187.4(HGD):c.891T>C (p.Ile297=)
NM_000187.4(HGD):c.897A>G (p.Thr299=)
NM_000187.4(HGD):c.900A>G (p.Val300=)
NM_000187.4(HGD):c.948C>A (p.Val316=)	rs1576289221
NM_000187.4(HGD):c.960T>G (p.Pro320=)	rs2107498220
NM_000187.4(HGD):c.963A>G (p.Arg321=)
NM_000187.4(HGD):c.972T>G (p.Val324=)
NM_000187.4(HGD):c.999T>C (p.Tyr333=)

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