ClinVar Miner

List of variants reported as likely benign for Jeune thoracic dystrophy; Nephronophthisis by Invitae

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Minimum conflict level:
ClinVar version:
Total variants: 406
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HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly) rs149325238 0.00190
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265 0.00161
NM_024753.5(TTC21B):c.2161A>C (p.Asn721His) rs146637219 0.00124
NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg) rs199821354 0.00124
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374 0.00107
NM_024753.5(TTC21B):c.895-8C>T rs1354698515 0.00070
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) rs146320075 0.00063
NM_024753.5(TTC21B):c.3850G>C (p.Asp1284His) rs139537546 0.00063
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu) rs140384742 0.00054
NM_024753.5(TTC21B):c.553-5A>C rs544620018 0.00051
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=) rs145926679 0.00050
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser) rs141240501 0.00048
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802 0.00041
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser) rs148222901 0.00041
NM_024753.5(TTC21B):c.2829A>G (p.Leu943=) rs146009256 0.00041
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu) rs34925776 0.00034
NM_024753.5(TTC21B):c.2300T>C (p.Ile767Thr) rs140824612 0.00029
NM_024753.5(TTC21B):c.1563C>T (p.His521=) rs138294801 0.00028
NM_024753.5(TTC21B):c.2942G>A (p.Arg981His) rs142022626 0.00028
NM_024753.5(TTC21B):c.960C>G (p.Asn320Lys) rs148866170 0.00025
NM_024753.5(TTC21B):c.429+6T>C rs377395392 0.00024
NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu) rs533077805 0.00022
NM_024753.5(TTC21B):c.468A>G (p.Gly156=) rs139457042 0.00020
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) rs183367929 0.00019
NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln) rs140908725 0.00016
NM_024753.5(TTC21B):c.785A>T (p.Asp262Val) rs756913474 0.00016
NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln) rs376163622 0.00015
NM_024753.5(TTC21B):c.549T>C (p.Gly183=) rs141664029 0.00014
NM_024753.5(TTC21B):c.441G>A (p.Leu147=) rs147696806 0.00013
NM_024753.5(TTC21B):c.1725A>G (p.Lys575=) rs771273516 0.00012
NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile) rs201162086 0.00012
NM_024753.5(TTC21B):c.1116G>A (p.Gly372=) rs771405314 0.00011
NM_024753.5(TTC21B):c.2937A>G (p.Leu979=) rs138361451 0.00011
NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr) rs767696555 0.00011
NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe) rs140323384 0.00010
NM_024753.5(TTC21B):c.1883G>A (p.Arg628His) rs139653847 0.00009
NM_024753.5(TTC21B):c.1923A>G (p.Gln641=) rs150622892 0.00009
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn) rs146201603 0.00009
NM_024753.5(TTC21B):c.453T>G (p.Leu151=) rs148935124 0.00009
NM_024753.5(TTC21B):c.553-20C>G rs376144362 0.00009
NM_024753.5(TTC21B):c.1046C>A (p.Thr349Asn) rs753999114 0.00008
NM_024753.5(TTC21B):c.2010T>A (p.Ile670=) rs757679360 0.00008
NM_024753.5(TTC21B):c.3495G>A (p.Thr1165=) rs147524050 0.00008
NM_024753.5(TTC21B):c.3552G>A (p.Ala1184=) rs148113339 0.00008
NM_024753.5(TTC21B):c.2568+17G>T rs370340216 0.00007
NM_024753.5(TTC21B):c.3819A>G (p.Ala1273=) rs373891320 0.00007
NM_024753.5(TTC21B):c.876A>G (p.Thr292=) rs185247361 0.00007
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala) rs762885961 0.00007
NM_024753.5(TTC21B):c.1047C>T (p.Thr349=) rs778117964 0.00006
NM_024753.5(TTC21B):c.1575T>C (p.Tyr525=) rs199559023 0.00006
NM_024753.5(TTC21B):c.1743C>T (p.Asp581=) rs200990862 0.00006
NM_024753.5(TTC21B):c.1875C>T (p.Asp625=) rs201527373 0.00006
NM_024753.5(TTC21B):c.2007T>C (p.Asp669=) rs138449110 0.00006
NM_024753.5(TTC21B):c.2054C>T (p.Pro685Leu) rs200930612 0.00006
NM_024753.5(TTC21B):c.2259G>A (p.Pro753=) rs570679271 0.00006
NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys) rs763158250 0.00006
NM_024753.5(TTC21B):c.3345T>C (p.Thr1115=) rs376866058 0.00006
NM_024753.5(TTC21B):c.1677G>C (p.Val559=) rs149842503 0.00005
NM_024753.5(TTC21B):c.22-6A>C rs377459815 0.00005
NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg) rs202087501 0.00005
NM_024753.5(TTC21B):c.2398T>C (p.Leu800=) rs781367281 0.00005
NM_024753.5(TTC21B):c.2550G>A (p.Ala850=) rs144151561 0.00005
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr) rs190101048 0.00005
NM_024753.5(TTC21B):c.2951-4C>T rs369065819 0.00005
NM_024753.5(TTC21B):c.3707A>G (p.Tyr1236Cys) rs144130537 0.00005
NM_024753.5(TTC21B):c.1854G>A (p.Ser618=) rs529997599 0.00004
NM_024753.5(TTC21B):c.2138+15T>C rs751850855 0.00004
NM_024753.5(TTC21B):c.2272T>C (p.Leu758=) rs111228450 0.00004
NM_024753.5(TTC21B):c.2580A>G (p.Leu860=) rs201563244 0.00004
NM_024753.5(TTC21B):c.263-15A>G rs534360293 0.00004
NM_024753.5(TTC21B):c.263-4C>A rs763567542 0.00004
NM_024753.5(TTC21B):c.2757+20T>C rs373826896 0.00004
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn) rs377209277 0.00004
NM_024753.5(TTC21B):c.3222T>G (p.Thr1074=) rs547771085 0.00004
NM_024753.5(TTC21B):c.3477G>A (p.Ala1159=) rs545954417 0.00004
NM_024753.5(TTC21B):c.3798G>A (p.Pro1266=) rs767458935 0.00004
NM_024753.5(TTC21B):c.3805+13A>G rs529123534 0.00004
NM_024753.5(TTC21B):c.3873+20T>C rs749543618 0.00004
NM_024753.5(TTC21B):c.66A>G (p.Val22=) rs778014644 0.00004
NM_024753.5(TTC21B):c.710+19A>G rs779005204 0.00004
NM_024753.5(TTC21B):c.895-16T>C rs774308869 0.00004
NM_024753.5(TTC21B):c.913A>G (p.Ile305Val) rs140899101 0.00004
NM_024753.5(TTC21B):c.1488C>T (p.Phe496=) rs777125970 0.00003
NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln) rs151309609 0.00003
NM_024753.5(TTC21B):c.235T>C (p.Tyr79His) rs752147287 0.00003
NM_024753.5(TTC21B):c.2721T>C (p.Tyr907=) rs369005097 0.00003
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln) rs747246700 0.00003
NM_024753.5(TTC21B):c.2853C>T (p.Asn951=) rs139246984 0.00003
NM_024753.5(TTC21B):c.3357C>T (p.His1119=) rs772142302 0.00003
NM_024753.5(TTC21B):c.430-6T>G rs554154931 0.00003
NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu) rs776138424 0.00002
NM_024753.5(TTC21B):c.1455A>G (p.Val485=) rs1179957656 0.00002
NM_024753.5(TTC21B):c.2523T>C (p.Tyr841=) rs375125407 0.00002
NM_024753.5(TTC21B):c.2682T>G (p.Ser894=) rs776376597 0.00002
NM_024753.5(TTC21B):c.2858C>T (p.Ala953Val) rs775868164 0.00002
NM_024753.5(TTC21B):c.2868+9A>G rs1465172057 0.00002
NM_024753.5(TTC21B):c.2972G>A (p.Arg991His) rs141708554 0.00002
NM_024753.5(TTC21B):c.3039G>A (p.Glu1013=) rs145213653 0.00002
NM_024753.5(TTC21B):c.318T>C (p.Ala106=) rs747777604 0.00002
NM_024753.5(TTC21B):c.345C>T (p.Gly115=) rs370444063 0.00002
NM_024753.5(TTC21B):c.523G>A (p.Gly175Arg) rs771788049 0.00002
NM_024753.5(TTC21B):c.9G>C (p.Ser3=) rs1186801288 0.00002
NM_024753.5(TTC21B):c.1014A>G (p.Gly338=) rs1213663988 0.00001
NM_024753.5(TTC21B):c.1087+9A>G rs377071324 0.00001
NM_024753.5(TTC21B):c.1089A>G (p.Gly363=) rs760376956 0.00001
NM_024753.5(TTC21B):c.1122A>G (p.Leu374=) rs1686814599 0.00001
NM_024753.5(TTC21B):c.1386+15G>A rs201281283 0.00001
NM_024753.5(TTC21B):c.1428T>C (p.Arg476=) rs376312170 0.00001
NM_024753.5(TTC21B):c.1441C>T (p.Leu481=) rs773128226 0.00001
NM_024753.5(TTC21B):c.1516+20del rs1559062651 0.00001
NM_024753.5(TTC21B):c.1542C>T (p.Asn514=) rs1422092714 0.00001
NM_024753.5(TTC21B):c.1548G>A (p.Gln516=) rs757424964 0.00001
NM_024753.5(TTC21B):c.1710T>G (p.Ala570=) rs766982980 0.00001
NM_024753.5(TTC21B):c.1900-20T>A rs1216094746 0.00001
NM_024753.5(TTC21B):c.2046C>T (p.Ala682=) rs766532748 0.00001
NM_024753.5(TTC21B):c.2121A>G (p.Leu707=) rs778283781 0.00001
NM_024753.5(TTC21B):c.2139-13G>A rs1686040312 0.00001
NM_024753.5(TTC21B):c.2569-6T>C rs761010837 0.00001
NM_024753.5(TTC21B):c.256A>C (p.Asn86His) rs773555238 0.00001
NM_024753.5(TTC21B):c.2754T>C (p.Asn918=) rs139668120 0.00001
NM_024753.5(TTC21B):c.2816G>A (p.Arg939Gln) rs751382210 0.00001
NM_024753.5(TTC21B):c.2868+18C>G rs189515413 0.00001
NM_024753.5(TTC21B):c.2967A>G (p.Leu989=) rs749030495 0.00001
NM_024753.5(TTC21B):c.3084T>C (p.Cys1028=) rs750764688 0.00001
NM_024753.5(TTC21B):c.3114A>G (p.Glu1038=) rs1436732135 0.00001
NM_024753.5(TTC21B):c.3135T>C (p.His1045=) rs370063297 0.00001
NM_024753.5(TTC21B):c.3144A>G (p.Lys1048=) rs762837601 0.00001
NM_024753.5(TTC21B):c.3273T>G (p.Thr1091=) rs1295298917 0.00001
NM_024753.5(TTC21B):c.338A>G (p.His113Arg) rs146865517 0.00001
NM_024753.5(TTC21B):c.3450A>G (p.Ala1150=) rs767037992 0.00001
NM_024753.5(TTC21B):c.3513A>G (p.Lys1171=) rs370432759 0.00001
NM_024753.5(TTC21B):c.3685-9T>C rs777313475 0.00001
NM_024753.5(TTC21B):c.3702T>C (p.Tyr1234=) rs376746146 0.00001
NM_024753.5(TTC21B):c.3714A>T (p.Gly1238=) rs760683105 0.00001
NM_024753.5(TTC21B):c.3780T>C (p.Tyr1260=) rs769230631 0.00001
NM_024753.5(TTC21B):c.3873+7A>T rs745875005 0.00001
NM_024753.5(TTC21B):c.3874-13A>G rs910204066 0.00001
NM_024753.5(TTC21B):c.3936G>A (p.Ala1312=) rs201470854 0.00001
NM_024753.5(TTC21B):c.435C>T (p.His145=) rs775319794 0.00001
NM_024753.5(TTC21B):c.576G>A (p.Gln192=) rs762917784 0.00001
NM_024753.5(TTC21B):c.592C>T (p.Leu198=) rs1320998801 0.00001
NM_024753.5(TTC21B):c.681T>C (p.Asp227=) rs376038966 0.00001
NM_024753.5(TTC21B):c.705A>G (p.Ala235=) rs1435067397 0.00001
NM_024753.5(TTC21B):c.715C>T (p.Leu239=) rs761170872 0.00001
NM_024753.5(TTC21B):c.796-20del rs753564394 0.00001
NM_024753.5(TTC21B):c.894+13A>G rs780758585 0.00001
NM_024753.5(TTC21B):c.895-7T>C rs749142305 0.00001
NM_024753.5(TTC21B):c.912T>G (p.Leu304=) rs780519055 0.00001
NM_024753.5(TTC21B):c.1032G>A (p.Leu344=)
NM_024753.5(TTC21B):c.1080C>G (p.Ala360=)
NM_024753.5(TTC21B):c.1087+18A>G rs1686833362
NM_024753.5(TTC21B):c.1088-12G>T
NM_024753.5(TTC21B):c.1088-13T>C
NM_024753.5(TTC21B):c.1088-18T>A rs1487373774
NM_024753.5(TTC21B):c.1088-20T>A
NM_024753.5(TTC21B):c.1089A>T (p.Gly363=)
NM_024753.5(TTC21B):c.1119A>G (p.Gln373=)
NM_024753.5(TTC21B):c.1140G>A (p.Gln380=)
NM_024753.5(TTC21B):c.114C>T (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.1152A>G (p.Leu384=)
NM_024753.5(TTC21B):c.1173T>A (p.Ile391=)
NM_024753.5(TTC21B):c.1179A>G (p.Lys393=) rs2105343710
NM_024753.5(TTC21B):c.1185+15_1185+19del
NM_024753.5(TTC21B):c.1266C>A (p.Val422=) rs765883060
NM_024753.5(TTC21B):c.1302T>C (p.Pro434=)
NM_024753.5(TTC21B):c.1353T>C (p.Ile451=)
NM_024753.5(TTC21B):c.1362G>A (p.Glu454=)
NM_024753.5(TTC21B):c.1380A>T (p.Pro460=) rs2105342870
NM_024753.5(TTC21B):c.1386+14G>A
NM_024753.5(TTC21B):c.1386+16A>G
NM_024753.5(TTC21B):c.1386+17C>T
NM_024753.5(TTC21B):c.1387-12del rs2105336073
NM_024753.5(TTC21B):c.1387-17T>C rs766567792
NM_024753.5(TTC21B):c.1389T>G (p.Pro463=)
NM_024753.5(TTC21B):c.141A>G (p.Thr47=)
NM_024753.5(TTC21B):c.1425G>A (p.Arg475=)
NM_024753.5(TTC21B):c.1443G>C (p.Leu481=)
NM_024753.5(TTC21B):c.1449T>C (p.Thr483=)
NM_024753.5(TTC21B):c.1449T>G (p.Thr483=)
NM_024753.5(TTC21B):c.1479A>G (p.Gln493=)
NM_024753.5(TTC21B):c.151+12T>G
NM_024753.5(TTC21B):c.151+19A>C
NM_024753.5(TTC21B):c.1512G>A (p.Leu504=) rs192305930
NM_024753.5(TTC21B):c.1516+10A>G rs2105335742
NM_024753.5(TTC21B):c.1516+12C>T rs2105335740
NM_024753.5(TTC21B):c.1517-13T>C
NM_024753.5(TTC21B):c.1517-4T>C
NM_024753.5(TTC21B):c.1517-5A>C rs769174542
NM_024753.5(TTC21B):c.1517-5A>T
NM_024753.5(TTC21B):c.1517-7T>C
NM_024753.5(TTC21B):c.152-17A>G
NM_024753.5(TTC21B):c.152-19T>C
NM_024753.5(TTC21B):c.1524T>C (p.Ile508=)
NM_024753.5(TTC21B):c.1527A>G (p.Glu509=)
NM_024753.5(TTC21B):c.1554C>T (p.Cys518=) rs1686303328
NM_024753.5(TTC21B):c.1578T>C (p.Ala526=) rs573290536
NM_024753.5(TTC21B):c.1596A>C (p.Leu532=)
NM_024753.5(TTC21B):c.162A>G (p.Gln54=)
NM_024753.5(TTC21B):c.1677G>T (p.Val559=)
NM_024753.5(TTC21B):c.168T>C (p.Ala56=)
NM_024753.5(TTC21B):c.1848T>C (p.Arg616=)
NM_024753.5(TTC21B):c.1866A>G (p.Glu622=)
NM_024753.5(TTC21B):c.1899+15A>G
NM_024753.5(TTC21B):c.1899+18T>A
NM_024753.5(TTC21B):c.1900-16A>G
NM_024753.5(TTC21B):c.1900-4A>G
NM_024753.5(TTC21B):c.1902T>C (p.His634=)
NM_024753.5(TTC21B):c.1932C>A (p.Ile644=)
NM_024753.5(TTC21B):c.1932C>T (p.Ile644=)
NM_024753.5(TTC21B):c.1953T>C (p.Ser651=)
NM_024753.5(TTC21B):c.1956A>G (p.Glu652=) rs1686129480
NM_024753.5(TTC21B):c.1962G>A (p.Val654=) rs1559056688
NM_024753.5(TTC21B):c.1968T>A (p.Val656=)
NM_024753.5(TTC21B):c.2052G>A (p.Gln684=)
NM_024753.5(TTC21B):c.205G>T (p.Val69Leu)
NM_024753.5(TTC21B):c.2095C>T (p.Leu699=)
NM_024753.5(TTC21B):c.21+14_21+15insGGTGAGCT
NM_024753.5(TTC21B):c.21+18_21+29del
NM_024753.5(TTC21B):c.21+2TGAGCGGG[2] rs59477041
NM_024753.5(TTC21B):c.21+7G>T
NM_024753.5(TTC21B):c.2136T>C (p.Phe712=)
NM_024753.5(TTC21B):c.2138+18C>T
NM_024753.5(TTC21B):c.2138+20C>T
NM_024753.5(TTC21B):c.2139-14G>C
NM_024753.5(TTC21B):c.2139-18T>C
NM_024753.5(TTC21B):c.2160T>C (p.Ala720=)
NM_024753.5(TTC21B):c.2172T>C (p.Ser724=)
NM_024753.5(TTC21B):c.2181C>T (p.Leu727=) rs1293610485
NM_024753.5(TTC21B):c.219T>C (p.Ser73=)
NM_024753.5(TTC21B):c.22-16C>G
NM_024753.5(TTC21B):c.22-16C>T rs2105370679
NM_024753.5(TTC21B):c.22-20_22-19insAGACTTTGATTAA
NM_024753.5(TTC21B):c.2211+14T>C
NM_024753.5(TTC21B):c.2211+20T>C
NM_024753.5(TTC21B):c.2223C>T (p.Ala741=)
NM_024753.5(TTC21B):c.2241A>G (p.Gln747=)
NM_024753.5(TTC21B):c.2322+8C>T
NM_024753.5(TTC21B):c.2323-17G>A
NM_024753.5(TTC21B):c.2328C>T (p.Ile776=) rs916756048
NM_024753.5(TTC21B):c.2355T>C (p.Thr785=)
NM_024753.5(TTC21B):c.2385G>A (p.Leu795=)
NM_024753.5(TTC21B):c.2391G>A (p.Glu797=)
NM_024753.5(TTC21B):c.2404T>C (p.Leu802=)
NM_024753.5(TTC21B):c.2409A>G (p.Lys803=)
NM_024753.5(TTC21B):c.240C>T (p.Ala80=)
NM_024753.5(TTC21B):c.2415T>C (p.Tyr805=) rs2105318229
NM_024753.5(TTC21B):c.2436T>C (p.Leu812=)
NM_024753.5(TTC21B):c.2444C>G (p.Ala815Gly)
NM_024753.5(TTC21B):c.2445T>C (p.Ala815=)
NM_024753.5(TTC21B):c.2461+18G>A rs2105318101
NM_024753.5(TTC21B):c.2462-12A>C
NM_024753.5(TTC21B):c.2462-18_2462-17del
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val) rs766811699
NM_024753.5(TTC21B):c.2544T>C (p.Gly848=)
NM_024753.5(TTC21B):c.2553C>A (p.Ile851=)
NM_024753.5(TTC21B):c.255T>G (p.Pro85=)
NM_024753.5(TTC21B):c.2568+11T>C rs2105313535
NM_024753.5(TTC21B):c.2568+15C>G rs368590446
NM_024753.5(TTC21B):c.2568+8C>T
NM_024753.5(TTC21B):c.2568+9A>T
NM_024753.5(TTC21B):c.2569-15A>G
NM_024753.5(TTC21B):c.2569-18T>G
NM_024753.5(TTC21B):c.2616G>A (p.Gln872=)
NM_024753.5(TTC21B):c.262+19A>G
NM_024753.5(TTC21B):c.2622T>C (p.Asp874=)
NM_024753.5(TTC21B):c.2628T>C (p.Val876=)
NM_024753.5(TTC21B):c.263-13T>C
NM_024753.5(TTC21B):c.263-16C>T
NM_024753.5(TTC21B):c.2655A>G (p.Glu885=)
NM_024753.5(TTC21B):c.2658T>C (p.Ile886=)
NM_024753.5(TTC21B):c.267A>G (p.Arg89=)
NM_024753.5(TTC21B):c.2757+11T>C
NM_024753.5(TTC21B):c.2757+14T>C
NM_024753.5(TTC21B):c.2757+7A>G
NM_024753.5(TTC21B):c.2758-11T>C rs968021831
NM_024753.5(TTC21B):c.2758-11T>G rs968021831
NM_024753.5(TTC21B):c.2758-7T>C
NM_024753.5(TTC21B):c.2772G>A (p.Leu924=)
NM_024753.5(TTC21B):c.2790A>C (p.Ala930=)
NM_024753.5(TTC21B):c.2799C>T (p.Asp933=)
NM_024753.5(TTC21B):c.2815C>A (p.Arg939=) rs151227843
NM_024753.5(TTC21B):c.2859T>C (p.Ala953=) rs993825534
NM_024753.5(TTC21B):c.2868+11G>C
NM_024753.5(TTC21B):c.2869-12T>A
NM_024753.5(TTC21B):c.2880T>C (p.Asp960=)
NM_024753.5(TTC21B):c.2892A>G (p.Arg964=)
NM_024753.5(TTC21B):c.291C>A (p.Ala97=) rs1687531560
NM_024753.5(TTC21B):c.2946G>A (p.Lys982=)
NM_024753.5(TTC21B):c.2950+18G>T rs2105301685
NM_024753.5(TTC21B):c.2950+8C>A
NM_024753.5(TTC21B):c.2951-10T>C
NM_024753.5(TTC21B):c.2951-13del
NM_024753.5(TTC21B):c.2982T>C (p.Asp994=) rs1685169233
NM_024753.5(TTC21B):c.3003A>G (p.Lys1001=)
NM_024753.5(TTC21B):c.3006C>T (p.Leu1002=)
NM_024753.5(TTC21B):c.3021A>G (p.Arg1007=)
NM_024753.5(TTC21B):c.3043C>T (p.Arg1015Cys)
NM_024753.5(TTC21B):c.3054A>G (p.Arg1018=)
NM_024753.5(TTC21B):c.3061T>C (p.Leu1021=)
NM_024753.5(TTC21B):c.3099T>C (p.Leu1033=)
NM_024753.5(TTC21B):c.3101+13A>G
NM_024753.5(TTC21B):c.3162C>T (p.Asp1054=) rs1574070946
NM_024753.5(TTC21B):c.3186T>C (p.Asn1062=)
NM_024753.5(TTC21B):c.3246C>T (p.Asn1082=)
NM_024753.5(TTC21B):c.3263+17_3263+18del
NM_024753.5(TTC21B):c.3263+19T>A
NM_024753.5(TTC21B):c.3264-13T>C rs754946168
NM_024753.5(TTC21B):c.3264-13T>G rs754946168
NM_024753.5(TTC21B):c.3264-19T>G rs775923873
NM_024753.5(TTC21B):c.3264-6A>G rs1685082857
NM_024753.5(TTC21B):c.3279G>A (p.Lys1093=)
NM_024753.5(TTC21B):c.3294A>G (p.Gln1098=)
NM_024753.5(TTC21B):c.330C>T (p.Ala110=)
NM_024753.5(TTC21B):c.3378A>G (p.Glu1126=) rs2105289408
NM_024753.5(TTC21B):c.3387C>T (p.Cys1129=) rs781212439
NM_024753.5(TTC21B):c.3414T>C (p.Asn1138=) rs2105289346
NM_024753.5(TTC21B):c.3453A>G (p.Ala1151=) rs951636516
NM_024753.5(TTC21B):c.3460-12del
NM_024753.5(TTC21B):c.3474A>G (p.Pro1158=)
NM_024753.5(TTC21B):c.3481T>C (p.Leu1161=) rs1457024463
NM_024753.5(TTC21B):c.3498T>C (p.Ala1166=) rs2105284685
NM_024753.5(TTC21B):c.3498T>G (p.Ala1166=)
NM_024753.5(TTC21B):c.3510G>A (p.Leu1170=)
NM_024753.5(TTC21B):c.3516G>A (p.Gln1172=)
NM_024753.5(TTC21B):c.3522A>T (p.Pro1174=) rs886218419
NM_024753.5(TTC21B):c.354A>G (p.Leu118=)
NM_024753.5(TTC21B):c.3624T>A (p.Ile1208=)
NM_024753.5(TTC21B):c.3627A>G (p.Gln1209=)
NM_024753.5(TTC21B):c.3642C>T (p.Asp1214=) rs2105284441
NM_024753.5(TTC21B):c.3666G>A (p.Arg1222=)
NM_024753.5(TTC21B):c.3670C>T (p.Leu1224=)
NM_024753.5(TTC21B):c.3684+8A>C rs373955678
NM_024753.5(TTC21B):c.3684+8A>G rs373955678
NM_024753.5(TTC21B):c.3685-19G>A
NM_024753.5(TTC21B):c.3685-19_3685-18dup
NM_024753.5(TTC21B):c.3690C>T (p.Cys1230=)
NM_024753.5(TTC21B):c.3717C>T (p.Tyr1239=) rs2105281091
NM_024753.5(TTC21B):c.3783C>T (p.Ser1261=) rs755467705
NM_024753.5(TTC21B):c.3804A>G (p.Val1268=) rs1684806310
NM_024753.5(TTC21B):c.3805+11C>T rs2105280892
NM_024753.5(TTC21B):c.3805+13A>T
NM_024753.5(TTC21B):c.3805+15C>T
NM_024753.5(TTC21B):c.3805+20A>G rs772796936
NM_024753.5(TTC21B):c.3805+9G>A
NM_024753.5(TTC21B):c.3806-17G>C
NM_024753.5(TTC21B):c.3846T>C (p.Tyr1282=)
NM_024753.5(TTC21B):c.384G>A (p.Arg128=)
NM_024753.5(TTC21B):c.3873+11A>C
NM_024753.5(TTC21B):c.3873+13A>G
NM_024753.5(TTC21B):c.3873+19A>G
NM_024753.5(TTC21B):c.3873+8C>T
NM_024753.5(TTC21B):c.3874-13_3874-10del rs763460455
NM_024753.5(TTC21B):c.3874-16T>A
NM_024753.5(TTC21B):c.3874-19T>G
NM_024753.5(TTC21B):c.3892A>G (p.Thr1298Ala)
NM_024753.5(TTC21B):c.3906C>T (p.Ile1302=)
NM_024753.5(TTC21B):c.3909A>G (p.Arg1303=)
NM_024753.5(TTC21B):c.3912G>A (p.Lys1304=) rs976520219
NM_024753.5(TTC21B):c.3939T>C (p.Ser1313=) rs1060504949
NM_024753.5(TTC21B):c.3942A>G (p.Leu1314=) rs2105274083
NM_024753.5(TTC21B):c.430-15T>C
NM_024753.5(TTC21B):c.432A>G (p.Gly144=)
NM_024753.5(TTC21B):c.541C>T (p.Leu181=)
NM_024753.5(TTC21B):c.543G>C (p.Leu181=)
NM_024753.5(TTC21B):c.544C>T (p.Leu182=) rs2105363182
NM_024753.5(TTC21B):c.552+11G>C rs1687431487
NM_024753.5(TTC21B):c.553-10C>T
NM_024753.5(TTC21B):c.553-13T>C
NM_024753.5(TTC21B):c.553-19T>C rs2105360690
NM_024753.5(TTC21B):c.553-5A>G
NM_024753.5(TTC21B):c.573C>T (p.Arg191=)
NM_024753.5(TTC21B):c.594G>A (p.Leu198=)
NM_024753.5(TTC21B):c.600T>C (p.Thr200=)
NM_024753.5(TTC21B):c.615C>T (p.Ile205=)
NM_024753.5(TTC21B):c.645T>C (p.Phe215=)
NM_024753.5(TTC21B):c.667C>T (p.Leu223=)
NM_024753.5(TTC21B):c.69A>G (p.Leu23=)
NM_024753.5(TTC21B):c.710+17T>C
NM_024753.5(TTC21B):c.710+9A>G
NM_024753.5(TTC21B):c.711-17A>G
NM_024753.5(TTC21B):c.723A>G (p.Gln241=)
NM_024753.5(TTC21B):c.735T>C (p.Asn245=)
NM_024753.5(TTC21B):c.768T>C (p.Tyr256=)
NM_024753.5(TTC21B):c.795+10A>G rs2105348659
NM_024753.5(TTC21B):c.795+10del rs1559068659
NM_024753.5(TTC21B):c.795+19_795+22del rs2105348638
NM_024753.5(TTC21B):c.796-4T>C
NM_024753.5(TTC21B):c.796-6T>C
NM_024753.5(TTC21B):c.801C>T (p.Ser267=)
NM_024753.5(TTC21B):c.828A>G (p.Thr276=)
NM_024753.5(TTC21B):c.864C>T (p.Phe288=)
NM_024753.5(TTC21B):c.873T>C (p.Ile291=)
NM_024753.5(TTC21B):c.879C>G (p.Leu293=)
NM_024753.5(TTC21B):c.894+10C>G
NM_024753.5(TTC21B):c.894+17T>C
NM_024753.5(TTC21B):c.895-14T>A
NM_024753.5(TTC21B):c.895-17T>C rs2105344934
NM_024753.5(TTC21B):c.909A>G (p.Gln303=)
NM_024753.5(TTC21B):c.918T>C (p.Leu306=)
NM_024753.5(TTC21B):c.933G>A (p.Thr311=)
NM_024753.5(TTC21B):c.945A>G (p.Arg315=)
NM_024753.5(TTC21B):c.96G>A (p.Arg32=) rs1271448820
NM_024753.5(TTC21B):c.984A>G (p.Thr328=) rs1574121074
NM_024753.5(TTC21B):c.990T>C (p.Leu330=) rs2105344681
NM_024753.5(TTC21B):c.99T>C (p.Tyr33=)

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