ClinVar Miner

List of variants in gene DKC1 reported as uncertain significance for Dyskeratosis congenita

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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_001363.5(DKC1):c.41A>G (p.Lys14Arg) rs376632263 0.00011
NM_001363.5(DKC1):c.1167G>A (p.Lys389=) rs369066088 0.00006
NM_001363.5(DKC1):c.97G>A (p.Ala33Thr) rs372511229 0.00006
NM_001363.5(DKC1):c.259A>G (p.Ile87Val) rs782202263 0.00005
NM_001363.5(DKC1):c.1349A>T (p.Glu450Val) rs782631659 0.00004
NM_001363.5(DKC1):c.84C>T (p.Ala28=) rs142474971 0.00004
NM_001363.5(DKC1):c.1471G>A (p.Asp491Asn) rs782598355 0.00003
NM_001363.5(DKC1):c.1451A>C (p.Glu484Ala) rs781923825 0.00002
NM_001363.5(DKC1):c.64T>G (p.Leu22Val) rs781849751 0.00002
NM_001363.5(DKC1):c.1006A>G (p.Ile336Val) rs781943265 0.00001
NM_001363.5(DKC1):c.1210C>G (p.Pro404Ala) rs1347625639 0.00001
NM_001363.5(DKC1):c.1318G>A (p.Glu440Lys) rs782193188 0.00001
NM_001363.5(DKC1):c.1334C>T (p.Ala445Val) rs782117503 0.00001
NM_001363.5(DKC1):c.1353T>A (p.Ser451Arg) rs370788135 0.00001
NM_001363.5(DKC1):c.1457G>A (p.Gly486Glu) rs1557265697 0.00001
NM_001363.5(DKC1):c.1481G>A (p.Ser494Asn) rs1557265768 0.00001
NM_001363.5(DKC1):c.1515A>C (p.Lys505Asn) rs1370393255 0.00001
NM_001363.5(DKC1):c.537C>G (p.Ala179=) rs782697778 0.00001
NM_001363.5(DKC1):c.640+3G>A rs1557264306 0.00001
NM_001363.5(DKC1):c.976G>A (p.Gly326Ser) rs140273992 0.00001
NC_000023.10:g.(?_153991099)_(154005162_?)dup
NC_000023.10:g.(?_153991100)_(153993815_?)dup
NC_000023.10:g.(?_153991100)_(154005142_?)dup
NM_001363.5(DKC1):c.1027A>G (p.Ile343Val) rs958540765
NM_001363.5(DKC1):c.1036+6_1036+7del rs1557264868
NM_001363.5(DKC1):c.1039A>G (p.Ile347Val) rs1248744087
NM_001363.5(DKC1):c.1066T>C (p.Ser356Pro)
NM_001363.5(DKC1):c.1091C>G (p.Ala364Gly) rs2148515101
NM_001363.5(DKC1):c.1114G>C (p.Glu372Gln) rs2148515114
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) rs1057520719
NM_001363.5(DKC1):c.1171C>A (p.Leu391Met) rs2148516382
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys) rs121912302
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile) rs199422254
NM_001363.5(DKC1):c.1275_1277del (p.Glu426del)
NM_001363.5(DKC1):c.1276G>C (p.Glu426Gln) rs2071881185
NM_001363.5(DKC1):c.1281_1310del (p.Val431_Glu440del)
NM_001363.5(DKC1):c.1293_1295del (p.Val432del)
NM_001363.5(DKC1):c.1304C>T (p.Pro435Leu)
NM_001363.5(DKC1):c.1328A>C (p.Lys443Thr)
NM_001363.5(DKC1):c.1338+3G>C
NM_001363.5(DKC1):c.1343A>G (p.Lys448Arg) rs2148517505
NM_001363.5(DKC1):c.1346G>C (p.Arg449Pro) rs1289430524
NM_001363.5(DKC1):c.1352G>A (p.Ser451Asn) rs2071893244
NM_001363.5(DKC1):c.1352G>C (p.Ser451Thr) rs2071893244
NM_001363.5(DKC1):c.1373C>G (p.Thr458Ser) rs2071893601
NM_001363.5(DKC1):c.1373C>T (p.Thr458Ile)
NM_001363.5(DKC1):c.1387C>A (p.Pro463Thr) rs782434084
NM_001363.5(DKC1):c.1398C>G (p.Ile466Met)
NM_001363.5(DKC1):c.142G>A (p.Asp48Asn)
NM_001363.5(DKC1):c.1462G>A (p.Glu488Lys)
NM_001363.5(DKC1):c.1477-14_1477-11del
NM_001363.5(DKC1):c.1477-1G>C rs2148517984
NM_001363.5(DKC1):c.1494GAA[4] (p.Lys503_Lys505del) rs782576893
NM_001363.5(DKC1):c.1512G>T (p.Lys504Asn) rs1557265783
NM_001363.5(DKC1):c.1524G>T (p.Glu508Asp) rs186518477
NM_001363.5(DKC1):c.191T>G (p.Val64Gly) rs2071739379
NM_001363.5(DKC1):c.211C>T (p.Pro71Ser)
NM_001363.5(DKC1):c.220T>C (p.Cys74Arg) rs2148509751
NM_001363.5(DKC1):c.244G>C (p.Glu82Gln)
NM_001363.5(DKC1):c.253G>A (p.Asp85Asn) rs2148509772
NM_001363.5(DKC1):c.263+6T>C rs2071741038
NM_001363.5(DKC1):c.277A>T (p.Asn93Tyr) rs2148509897
NM_001363.5(DKC1):c.332G>A (p.Arg111Gln) rs1036880108
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.421C>A (p.Arg141Ser)
NM_001363.5(DKC1):c.421C>T (p.Arg141Cys)
NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del) rs782201995
NM_001363.5(DKC1):c.484G>A (p.Ala162Thr) rs2071754474
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu) rs782159247
NM_001363.5(DKC1):c.494G>T (p.Gly165Val) rs782622660
NM_001363.5(DKC1):c.52_54del (p.Glu18del) rs2071726998
NM_001363.5(DKC1):c.548G>A (p.Arg183Gln)
NM_001363.5(DKC1):c.559A>C (p.Ile187Leu)
NM_001363.5(DKC1):c.568G>A (p.Val190Ile) rs2071758363
NM_001363.5(DKC1):c.629A>G (p.Glu210Gly) rs2071759206
NM_001363.5(DKC1):c.62C>T (p.Ser21Leu)
NM_001363.5(DKC1):c.67C>A (p.Pro23Thr)
NM_001363.5(DKC1):c.70G>A (p.Glu24Lys) rs2148509194
NM_001363.5(DKC1):c.739C>A (p.Arg247=)
NM_001363.5(DKC1):c.75A>T (p.Glu25Asp)
NM_001363.5(DKC1):c.763A>G (p.Ser255Gly)
NM_001363.5(DKC1):c.778A>G (p.Met260Val)
NM_001363.5(DKC1):c.884C>T (p.Ser295Phe) rs2071791712
NM_001363.5(DKC1):c.88A>G (p.Ile30Val)
NM_001363.5(DKC1):c.948G>T (p.Met316Ile) rs2148513624
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln) rs121912291
NM_001363.5(DKC1):c.979A>G (p.Ile327Val) rs2071814299
NM_001363.5(DKC1):c.985G>A (p.Val329Ile) rs2071814456
NM_001363.5(DKC1):c.993G>T (p.Gln331His)

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