ClinVar Miner

List of variants reported as uncertain significance for Asphyxiating thoracic dystrophy 4 by Illumina Laboratory Services, Illumina

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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.-17C>T rs572065013 0.00252
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu) rs375721812 0.00118
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.*460T>C rs537286454 0.00098
NM_024753.5(TTC21B):c.3874-14T>C rs200347449 0.00096
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) rs146320075 0.00063
NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His) rs139327086 0.00056
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.2815C>T (p.Arg939Trp) rs151227843 0.00036
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu) rs34925776 0.00034
NM_024753.5(TTC21B):c.*473C>G rs763021259 0.00032
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly) rs147540469 0.00031
NM_024753.5(TTC21B):c.1563C>T (p.His521=) rs138294801 0.00028
NM_024753.5(TTC21B):c.-24C>T rs554218980 0.00019
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) rs183367929 0.00019
NM_024753.5(TTC21B):c.-18C>T rs187707893 0.00018
NM_024753.5(TTC21B):c.1448C>A (p.Thr483Asn) rs142887208 0.00016
NM_024753.5(TTC21B):c.785A>T (p.Asp262Val) rs756913474 0.00016
NM_024753.5(TTC21B):c.*424A>G rs117664297 0.00011
NM_024753.5(TTC21B):c.*910C>T rs745335688 0.00011
NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe) rs140323384 0.00010
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala) rs778812789 0.00009
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn) rs146201603 0.00009
NM_024753.5(TTC21B):c.783G>T (p.Gly261=) rs200255917 0.00009
NM_024753.5(TTC21B):c.795+3A>G rs753275145 0.00008
NM_024753.5(TTC21B):c.876A>G (p.Thr292=) rs185247361 0.00007
NM_024753.5(TTC21B):c.1575T>C (p.Tyr525=) rs199559023 0.00006
NM_024753.5(TTC21B):c.2259G>A (p.Pro753=) rs570679271 0.00006
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00006
NM_024753.5(TTC21B):c.*246G>A rs759810831 0.00005
NM_024753.5(TTC21B):c.-44G>A rs1047095367 0.00005
NM_024753.5(TTC21B):c.1677G>C (p.Val559=) rs149842503 0.00005
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr) rs190101048 0.00005
NM_024753.5(TTC21B):c.*360C>A rs923460925 0.00004
NM_024753.5(TTC21B):c.*419C>A rs886055024 0.00004
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn) rs377209277 0.00004
NM_024753.5(TTC21B):c.3805+13A>G rs529123534 0.00004
NM_024753.5(TTC21B):c.2100G>A (p.Lys700=) rs368202285 0.00003
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln) rs747246700 0.00003
NM_024753.5(TTC21B):c.3873+10T>A rs779470575 0.00003
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys) rs184586093 0.00003
NM_024753.5(TTC21B):c.*1107A>G rs1200937712 0.00002
NM_024753.5(TTC21B):c.*593G>A rs886055022 0.00002
NM_024753.5(TTC21B):c.*680C>T rs746664114 0.00002
NM_024753.5(TTC21B):c.*730A>C rs886055021 0.00002
NM_024753.5(TTC21B):c.2903A>G (p.Tyr968Cys) rs574803644 0.00002
NM_024753.5(TTC21B):c.*1104G>A rs1001278499 0.00001
NM_024753.5(TTC21B):c.*642C>T rs547612425 0.00001
NM_024753.5(TTC21B):c.-16C>G rs886055030 0.00001
NM_024753.5(TTC21B):c.-64G>A rs886055031 0.00001
NM_024753.5(TTC21B):c.1432A>T (p.Ile478Phe) rs948455096 0.00001
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg) rs748993825 0.00001
NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln) rs377128320 0.00001
NM_024753.5(TTC21B):c.256A>C (p.Asn86His) rs773555238 0.00001
NM_024753.5(TTC21B):c.3101+9A>G rs764331829 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.3500A>G (p.Tyr1167Cys) rs1040877016 0.00001
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala) rs568969576 0.00001
NM_024753.5(TTC21B):c.*1117A>G rs189771746
NM_024753.5(TTC21B):c.*451G>C rs886055023
NM_024753.5(TTC21B):c.*540T>C rs534739269
NM_024753.5(TTC21B):c.*544A>G rs565605248
NM_024753.5(TTC21B):c.*681G>A rs545195226
NM_024753.5(TTC21B):c.*926C>A rs1046348644
NM_024753.5(TTC21B):c.1116G>T (p.Gly372=) rs771405314
NM_024753.5(TTC21B):c.1181C>T (p.Ser394Phe) rs748339995
NM_024753.5(TTC21B):c.1578T>C (p.Ala526=) rs573290536
NM_024753.5(TTC21B):c.1609T>C (p.Leu537=) rs200916824
NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly) rs1354455514
NM_024753.5(TTC21B):c.2084C>T (p.Ala695Val) rs1686122209
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val) rs766811699
NM_024753.5(TTC21B):c.2622T>G (p.Asp874Glu) rs886055026
NM_024753.5(TTC21B):c.2830C>A (p.Leu944Met) rs1685490402
NM_024753.5(TTC21B):c.2901C>G (p.Asp967Glu) rs886055025
NM_024753.5(TTC21B):c.2983C>G (p.Leu995Val) rs1685169149
NM_024753.5(TTC21B):c.3042A>G (p.Lys1014=) rs755454992
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.63T>C (p.His21=) rs886055029
NM_024753.5(TTC21B):c.685G>A (p.Asp229Asn) rs769003862
NM_024753.5(TTC21B):c.793A>C (p.Lys265Gln) rs886055027

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