ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as likely benign

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Total variants: 213
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.-273T>C rs139703273 0.00604
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_000518.4(HBB):c.-51T>C rs386134236 0.00041
NC_000011.10:g.5227246C>T rs565478698 0.00034
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_000518.5(HBB):c.207C>T (p.Leu69=) rs112287010 0.00016
NM_000518.4(HBB):c.-132G>T rs887821047 0.00009
NM_000518.5(HBB):c.92+26T>C rs1035809053 0.00007
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705 0.00005
NM_000518.5(HBB):c.180G>A (p.Lys60=) rs34621955 0.00004
NM_000518.5(HBB):c.85C>T (p.Leu29=) rs33958088 0.00004
NM_000518.5(HBB):c.-31C>T rs63750628 0.00003
NM_000518.5(HBB):c.108C>T (p.Tyr36=) rs33982568 0.00003
NM_000518.5(HBB):c.33C>T (p.Ala11=) rs35799536 0.00003
NM_000518.5(HBB):c.93-27C>T rs376272324 0.00003
NM_000518.5(HBB):c.156T>C (p.Pro52=) rs762111851 0.00002
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) rs34439278 0.00002
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000518.5(HBB):c.92+28T>C rs565131043 0.00002
NM_000518.5(HBB):c.92+36C>A rs776904725 0.00002
NM_000518.5(HBB):c.92+39A>G rs372716225 0.00002
NM_000518.5(HBB):c.93-18C>T rs777028217 0.00002
NM_000518.5(HBB):c.93-40C>T rs556727592 0.00002
NM_000518.4(HBB):c.-104G>A rs1274149043 0.00001
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455 0.00001
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254 0.00001
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026 0.00001
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) rs35262412 0.00001
NM_000518.5(HBB):c.144T>C (p.Asp48=) rs754454495 0.00001
NM_000518.5(HBB):c.159T>C (p.Asp53=) rs777114006 0.00001
NM_000518.5(HBB):c.165T>C (p.Val55=) rs760975738 0.00001
NM_000518.5(HBB):c.171C>T (p.Gly57=) rs193922551 0.00001
NM_000518.5(HBB):c.174C>T (p.Asn58=) rs35278874 0.00001
NM_000518.5(HBB):c.201A>G (p.Lys67=) rs36092904 0.00001
NM_000518.5(HBB):c.209G>A (p.Gly70Asp) rs34718174 0.00001
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496 0.00001
NM_000518.5(HBB):c.27G>A (p.Lys9=) rs35198910 0.00001
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359 0.00001
NM_000518.5(HBB):c.45G>A (p.Leu15=) rs762782573 0.00001
NM_000518.5(HBB):c.60C>T (p.Asn20=) rs63750840 0.00001
NM_000518.5(HBB):c.6G>T (p.Val2=) rs1349384278 0.00001
NM_000518.5(HBB):c.78T>G (p.Gly26=) rs373379910 0.00001
NM_000518.5(HBB):c.90C>A (p.Gly30=) rs35578002 0.00001
NM_000518.5(HBB):c.92+37C>A rs372467642 0.00001
NM_000518.5(HBB):c.92+40T>C rs375672426 0.00001
NM_000518.5(HBB):c.92+45A>G rs773415134 0.00001
NM_000518.5(HBB):c.92+48G>A rs372778054 0.00001
NM_000518.5(HBB):c.92+53T>C rs1847576718 0.00001
NM_000518.5(HBB):c.92+61C>T rs747160822 0.00001
NM_000518.5(HBB):c.93-15T>C rs35456885 0.00001
NM_000518.5(HBB):c.93-24A>G rs773687221 0.00001
NM_000518.5(HBB):c.93-28G>C rs1564875652 0.00001
NM_000518.5(HBB):c.93-34C>G rs763696976 0.00001
NM_000518.5(HBB):c.93-46T>C rs373538213 0.00001
NM_000518.5(HBB):c.96G>T (p.Leu32=) rs778841729 0.00001
NC_000011.10:g.5227091C>T
NC_000011.10:g.5227294=
NM_000518.4(HBB):c.-92C>G rs397515291
NM_000518.4(HBB):c.142G>A (p.Asp48Asn) rs33932070
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.20A>C (p.Glu7Ala) rs334
NM_000518.4(HBB):c.232C>G (p.His78Asp) rs33991294
NM_000518.4(HBB):c.238G>T (p.Asp80Tyr) rs33990858
NM_000518.4(HBB):c.263C>A (p.Thr88Lys) rs33993568
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000518.4(HBB):c.64G>T (p.Asp22Tyr) rs33950093
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.4(HBB):c.68A>G (p.Glu23Gly) rs33936254
NM_000518.4(HBB):c.8A>G (p.His3Arg) rs33983205
NM_000518.5(HBB):c.-10_-7del rs34196559
NM_000518.5(HBB):c.102G>A (p.Val34=)
NM_000518.5(HBB):c.102G>T (p.Val34=)
NM_000518.5(HBB):c.10C>G (p.Leu4Val) rs34126315
NM_000518.5(HBB):c.111T>G (p.Pro37=)
NM_000518.5(HBB):c.117C>T (p.Thr39=) rs1847565822
NM_000518.5(HBB):c.129T>C (p.Phe43=) rs1554917971
NM_000518.5(HBB):c.12G>A (p.Leu4=)
NM_000518.5(HBB):c.12G>C (p.Leu4=) rs1589893645
NM_000518.5(HBB):c.135C>G (p.Ser45=)
NM_000518.5(HBB):c.140G>A (p.Gly47Glu) rs35303218
NM_000518.5(HBB):c.141G>A (p.Gly47=) rs1554917961
NM_000518.5(HBB):c.141G>C (p.Gly47=) rs1554917961
NM_000518.5(HBB):c.147G>C (p.Leu49=)
NM_000518.5(HBB):c.150C>A (p.Ser50=) rs2133588564
NM_000518.5(HBB):c.150C>T (p.Ser50=) rs2133588564
NM_000518.5(HBB):c.16C>G (p.Pro6Ala) rs33912272
NM_000518.5(HBB):c.171C>A (p.Gly57=)
NM_000518.5(HBB):c.186G>C (p.Lys62Asn) rs34446260
NM_000518.5(HBB):c.18T>C (p.Pro6=) rs2133589583
NM_000518.5(HBB):c.195C>G (p.Gly65=) rs2133588365
NM_000518.5(HBB):c.195C>T (p.Gly65=)
NM_000518.5(HBB):c.198G>A (p.Lys66=)
NM_000518.5(HBB):c.210T>A (p.Gly70=) rs2133588276
NM_000518.5(HBB):c.213C>T (p.Ala71=)
NM_000518.5(HBB):c.21G>A (p.Glu7=) rs1589893600
NM_000518.5(HBB):c.225C>G (p.Gly75=) rs1184506313
NM_000518.5(HBB):c.234C>T (p.His78=) rs33918483
NM_000518.5(HBB):c.237G>T (p.Leu79=)
NM_000518.5(HBB):c.246C>G (p.Leu82=) rs145669504
NM_000518.5(HBB):c.246C>T (p.Leu82=)
NM_000518.5(HBB):c.249G>A (p.Lys83=)
NM_000518.5(HBB):c.24G>A (p.Glu8=)
NM_000518.5(HBB):c.251G>A (p.Gly84Asp) rs1803195
NM_000518.5(HBB):c.252C>A (p.Gly84=) rs2133588069
NM_000518.5(HBB):c.252C>T (p.Gly84=)
NM_000518.5(HBB):c.255C>A (p.Thr85=) rs1334966870
NM_000518.5(HBB):c.255C>T (p.Thr85=) rs1334966870
NM_000518.5(HBB):c.258T>C (p.Phe86=) rs2133588043
NM_000518.5(HBB):c.261C>T (p.Ala87=) rs1367496536
NM_000518.5(HBB):c.265C>T (p.Leu89=)
NM_000518.5(HBB):c.267G>A (p.Leu89=)
NM_000518.5(HBB):c.270T>C (p.Ser90=) rs1554917814
NM_000518.5(HBB):c.273G>A (p.Glu91=) rs35002698
NM_000518.5(HBB):c.276G>A (p.Leu92=)
NM_000518.5(HBB):c.276G>T (p.Leu92=)
NM_000518.5(HBB):c.279C>T (p.His93=) rs34083951
NM_000518.5(HBB):c.282T>C (p.Cys94=)
NM_000518.5(HBB):c.285C>T (p.Asp95=)
NM_000518.5(HBB):c.288G>A (p.Lys96=) rs36038739
NM_000518.5(HBB):c.289C>T (p.Leu97=) rs34665886
NM_000518.5(HBB):c.300T>C (p.Asp100=) rs34013622
NM_000518.5(HBB):c.31G>A (p.Ala11Thr) rs63750717
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
NM_000518.5(HBB):c.39T>C (p.Thr13=) rs1554918207
NM_000518.5(HBB):c.45G>T (p.Leu15=)
NM_000518.5(HBB):c.4G>A (p.Val2Met) rs33958358
NM_000518.5(HBB):c.54G>A (p.Lys18=) rs36006214
NM_000518.5(HBB):c.57G>A (p.Val19=) rs1554918177
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000518.5(HBB):c.60C>A (p.Asn20Lys) rs63750840
NM_000518.5(HBB):c.6G>A (p.Val2=) rs1349384278
NM_000518.5(HBB):c.78T>C (p.Gly26=) rs373379910
NM_000518.5(HBB):c.84C>A (p.Ala28=)
NM_000518.5(HBB):c.84C>T (p.Ala28=) rs748296717
NM_000518.5(HBB):c.87G>A (p.Leu29=) rs1191121382
NM_000518.5(HBB):c.87G>C (p.Leu29=) rs1191121382
NM_000518.5(HBB):c.92+10A>C
NM_000518.5(HBB):c.92+12G>A rs2133589140
NM_000518.5(HBB):c.92+13G>T rs753444453
NM_000518.5(HBB):c.92+15T>C rs2133589130
NM_000518.5(HBB):c.92+17C>T rs1308676559
NM_000518.5(HBB):c.92+18A>G rs2133589125
NM_000518.5(HBB):c.92+21A>G
NM_000518.5(HBB):c.92+22C>A
NM_000518.5(HBB):c.92+22C>G rs1232883523
NM_000518.5(HBB):c.92+22C>T
NM_000518.5(HBB):c.92+24G>C rs1847578084
NM_000518.5(HBB):c.92+25G>A
NM_000518.5(HBB):c.92+32G>A
NM_000518.5(HBB):c.92+35A>G rs1847577579
NM_000518.5(HBB):c.92+35_92+36insATAGAATG rs781015056
NM_000518.5(HBB):c.92+36C>T
NM_000518.5(HBB):c.92+40T>A rs375672426
NM_000518.5(HBB):c.92+41A>G rs1847577181
NM_000518.5(HBB):c.92+43A>C
NM_000518.5(HBB):c.92+46C>T rs1847576979
NM_000518.5(HBB):c.92+48G>C rs372778054
NM_000518.5(HBB):c.92+49G>A rs2133589046
NM_000518.5(HBB):c.92+50G>A rs377447760
NM_000518.5(HBB):c.92+54G>C rs1847576671
NM_000518.5(HBB):c.92+57G>A rs962266675
NM_000518.5(HBB):c.92+57G>C rs962266675
NM_000518.5(HBB):c.92+57G>T rs962266675
NM_000518.5(HBB):c.92+58A>G rs1847576487
NM_000518.5(HBB):c.92+61C>G rs747160822
NM_000518.5(HBB):c.92+62A>T rs988935334
NM_000518.5(HBB):c.92+64A>C rs2133589016
NM_000518.5(HBB):c.92+64A>G
NM_000518.5(HBB):c.92+65G>A
NM_000518.5(HBB):c.92+65G>T
NM_000518.5(HBB):c.92+7A>G rs63750195
NM_000518.5(HBB):c.92+8T>C rs374373297
NM_000518.5(HBB):c.92+9C>T rs374317172
NM_000518.5(HBB):c.93-14T>C rs1428777319
NM_000518.5(HBB):c.93-16A>G rs1480884739
NM_000518.5(HBB):c.93-17T>C rs1176965004
NM_000518.5(HBB):c.93-18C>G
NM_000518.5(HBB):c.93-19T>C
NM_000518.5(HBB):c.93-19T>G rs1451581925
NM_000518.5(HBB):c.93-24_93-23del rs1385066437
NM_000518.5(HBB):c.93-27C>A
NM_000518.5(HBB):c.93-27C>G
NM_000518.5(HBB):c.93-28G>T
NM_000518.5(HBB):c.93-30C>G rs752175922
NM_000518.5(HBB):c.93-31T>G
NM_000518.5(HBB):c.93-32C>T rs1372536490
NM_000518.5(HBB):c.93-34C>T rs763696976
NM_000518.5(HBB):c.93-36C>T
NM_000518.5(HBB):c.93-36CT[2] rs746824976
NM_000518.5(HBB):c.93-38G>A
NM_000518.5(HBB):c.93-39T>C
NM_000518.5(HBB):c.93-40C>A rs556727592
NM_000518.5(HBB):c.93-41A>C rs1847575815
NM_000518.5(HBB):c.93-41A>G
NM_000518.5(HBB):c.93-44G>C
NM_000518.5(HBB):c.93-46T>A rs373538213
NM_000518.5(HBB):c.93-55G>A rs1186575711
NM_000518.5(HBB):c.93-55G>C
NM_000518.5(HBB):c.93-56G>A
NM_000518.5(HBB):c.93-59C>T rs1847576219
NM_000518.5(HBB):c.93-5C>G
NM_000518.5(HBB):c.93-5C>T rs1205031264
NM_000518.5(HBB):c.93-61C>A
NM_000518.5(HBB):c.93-62A>T
NM_000518.5(HBB):c.93-64A>G rs2133589012
NM_000518.5(HBB):c.93-65_93-64del
NM_000518.5(HBB):c.93-6C>T rs1554918048
NM_000518.5(HBB):c.93-7C>A rs2133588899
NM_000518.5(HBB):c.93-9C>G
NM_000518.5(HBB):c.93-9dup
NM_000518.5(HBB):c.9T>A (p.His3Gln) rs713040
NM_000518.5(HBB):c.9_10delinsCT (p.His3_Leu4=) rs2133589628

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