ClinVar Miner

List of variants in gene RBCK1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 161
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HGVS dbSNP
NC_000020.10:g.(?_389363)_(411094_?)dup
NM_031229.4(RBCK1):c.1017G>A (p.Arg339=)
NM_031229.4(RBCK1):c.1028C>T (p.Ala343Val) rs1232409954
NM_031229.4(RBCK1):c.1029G>A (p.Ala343=) rs201470953
NM_031229.4(RBCK1):c.1030-4G>A rs149038161
NM_031229.4(RBCK1):c.1040C>G (p.Pro347Arg) rs370963132
NM_031229.4(RBCK1):c.1054C>T (p.Arg352Ter) rs780854072
NM_031229.4(RBCK1):c.1055G>A (p.Arg352Gln)
NM_031229.4(RBCK1):c.1090C>T (p.Arg364Cys) rs144018482
NM_031229.4(RBCK1):c.1091G>A (p.Arg364His)
NM_031229.4(RBCK1):c.1112G>T (p.Cys371Phe) rs1555787599
NM_031229.4(RBCK1):c.1117A>T (p.Thr373Ser) rs531364402
NM_031229.4(RBCK1):c.113G>A (p.Arg38Gln) rs773934109
NM_031229.4(RBCK1):c.1160A>G (p.Asn387Ser) rs566912235
NM_031229.4(RBCK1):c.1164G>A (p.Glu388=) rs750877383
NM_031229.4(RBCK1):c.1188C>T (p.His396=) rs766618284
NM_031229.4(RBCK1):c.1189G>A (p.Val397Ile) rs538961301
NM_031229.4(RBCK1):c.1209+2_1209+3insA rs774461310
NM_031229.4(RBCK1):c.121_122del (p.Leu41fs) rs727503763
NM_031229.4(RBCK1):c.1257C>T (p.Ala419=)
NM_031229.4(RBCK1):c.1264G>A (p.Ala422Thr)
NM_031229.4(RBCK1):c.1272C>T (p.Asn424=)
NM_031229.4(RBCK1):c.1285C>T (p.Arg429Trp) rs764244683
NM_031229.4(RBCK1):c.1293G>A (p.Thr431=)
NM_031229.4(RBCK1):c.1297G>C (p.Glu433Gln) rs754890674
NM_031229.4(RBCK1):c.1302G>T (p.Met434Ile) rs1600315243
NM_031229.4(RBCK1):c.1308+1G>T rs1555787903
NM_031229.4(RBCK1):c.1326C>T (p.Gly442=) rs1437187965
NM_031229.4(RBCK1):c.132A>T (p.Gln44His) rs145132343
NM_031229.4(RBCK1):c.1336C>T (p.Arg446Cys) rs372540581
NM_031229.4(RBCK1):c.1337G>A (p.Arg446His) rs150032325
NM_031229.4(RBCK1):c.1344C>T (p.Pro448=)
NM_031229.4(RBCK1):c.1346A>G (p.Gln449Arg) rs371077650
NM_031229.4(RBCK1):c.1356C>T (p.Ile452=)
NM_031229.4(RBCK1):c.1377C>T (p.Gly459=)
NM_031229.4(RBCK1):c.1380C>T (p.Cys460=)
NM_031229.4(RBCK1):c.1381G>A (p.Asp461Asn)
NM_031229.4(RBCK1):c.1390C>T (p.Arg464Cys) rs145423115
NM_031229.4(RBCK1):c.1395C>T (p.Cys465=)
NM_031229.4(RBCK1):c.1410C>T (p.Thr470=)
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys) rs1342598444
NM_031229.4(RBCK1):c.1431G>A (p.Lys477=)
NM_031229.4(RBCK1):c.1446C>T (p.Gly482=)
NM_031229.4(RBCK1):c.144G>A (p.Glu48=) rs41281892
NM_031229.4(RBCK1):c.1453-10C>T rs112086441
NM_031229.4(RBCK1):c.146T>C (p.Val49Ala)
NM_031229.4(RBCK1):c.1471G>A (p.Gly491Arg)
NM_031229.4(RBCK1):c.1480C>T (p.Arg494Cys)
NM_031229.4(RBCK1):c.1488G>A (p.Arg496=)
NM_031229.4(RBCK1):c.1489G>A (p.Val497Ile)
NM_031229.4(RBCK1):c.1495G>A (p.Gly499Arg)
NM_031229.4(RBCK1):c.150C>T (p.Ser50=) rs149008463
NM_031229.4(RBCK1):c.1530C>T (p.His510=)
NM_031229.4(RBCK1):c.154A>G (p.Thr52Ala)
NM_031229.4(RBCK1):c.168-20G>T
NM_031229.4(RBCK1):c.171G>A (p.Leu57=)
NM_031229.4(RBCK1):c.173G>C (p.Trp58Ser) rs143804674
NM_031229.4(RBCK1):c.175G>C (p.Val59Leu) rs751582683
NM_031229.4(RBCK1):c.180C>T (p.Ser60=) rs757115540
NM_031229.4(RBCK1):c.185A>T (p.Glu62Val) rs1568554230
NM_031229.4(RBCK1):c.202A>G (p.Thr68Ala) rs779621384
NM_031229.4(RBCK1):c.203C>T (p.Thr68Ile) rs753472058
NM_031229.4(RBCK1):c.204C>T (p.Thr68=) rs189407509
NM_031229.4(RBCK1):c.205G>A (p.Val69Ile)
NM_031229.4(RBCK1):c.226C>T (p.Arg76Cys)
NM_031229.4(RBCK1):c.228C>G (p.Arg76=)
NM_031229.4(RBCK1):c.246G>A (p.Ala82=) rs148091459
NM_031229.4(RBCK1):c.256G>C (p.Asp86His)
NM_031229.4(RBCK1):c.261+15G>T rs11698154
NM_031229.4(RBCK1):c.261+6_261+9del rs754865819
NM_031229.4(RBCK1):c.28G>C (p.Glu10Gln)
NM_031229.4(RBCK1):c.325C>T (p.Arg109Ter) rs1568554654
NM_031229.4(RBCK1):c.326G>A (p.Arg109Gln)
NM_031229.4(RBCK1):c.331C>G (p.Gln111Glu)
NM_031229.4(RBCK1):c.331C>T (p.Gln111Ter)
NM_031229.4(RBCK1):c.354G>A (p.Gly118=)
NM_031229.4(RBCK1):c.358C>T (p.Arg120Trp) rs774464341
NM_031229.4(RBCK1):c.366T>C (p.Asn122=)
NM_031229.4(RBCK1):c.400C>T (p.Arg134Cys) rs146325218
NM_031229.4(RBCK1):c.41G>A (p.Ser14Asn)
NM_031229.4(RBCK1):c.436G>A (p.Glu146Lys) rs1555785275
NM_031229.4(RBCK1):c.448C>T (p.Arg150Trp)
NM_031229.4(RBCK1):c.449G>A (p.Arg150Gln)
NM_031229.4(RBCK1):c.450G>T (p.Arg150=)
NM_031229.4(RBCK1):c.461-2A>G
NM_031229.4(RBCK1):c.461-4A>G
NM_031229.4(RBCK1):c.463C>A (p.Leu155Met)
NM_031229.4(RBCK1):c.477C>T (p.Asp159=)
NM_031229.4(RBCK1):c.481A>G (p.Thr161Ala)
NM_031229.4(RBCK1):c.492G>A (p.Pro164=)
NM_031229.4(RBCK1):c.50G>A (p.Arg17Gln)
NM_031229.4(RBCK1):c.513C>G (p.Gly171=)
NM_031229.4(RBCK1):c.513C>T (p.Gly171=)
NM_031229.4(RBCK1):c.514C>A (p.Pro172Thr)
NM_031229.4(RBCK1):c.518del (p.Pro173fs)
NM_031229.4(RBCK1):c.530T>C (p.Val177Ala) rs766968693
NM_031229.4(RBCK1):c.531C>G (p.Val177=)
NM_031229.4(RBCK1):c.531C>T (p.Val177=) rs375018967
NM_031229.4(RBCK1):c.542C>A (p.Pro181His)
NM_031229.4(RBCK1):c.547C>G (p.Arg183Gly)
NM_031229.4(RBCK1):c.550G>A (p.Gly184Arg) rs147407444
NM_031229.4(RBCK1):c.553C>T (p.Gln185Ter) rs727503762
NM_031229.4(RBCK1):c.582+1G>A
NM_031229.4(RBCK1):c.582+1G>C rs1017046170
NM_031229.4(RBCK1):c.586_596del (p.Gly196fs)
NM_031229.4(RBCK1):c.5A>G (p.Asp2Gly) rs763445513
NM_031229.4(RBCK1):c.600C>T (p.Pro200=)
NM_031229.4(RBCK1):c.654G>A (p.Arg218=) rs149541936
NM_031229.4(RBCK1):c.663C>G (p.Pro221=)
NM_031229.4(RBCK1):c.663del (p.Glu222fs)
NM_031229.4(RBCK1):c.666G>C (p.Glu222Asp)
NM_031229.4(RBCK1):c.674A>G (p.Gln225Arg)
NM_031229.4(RBCK1):c.687A>G (p.Ser229=)
NM_031229.4(RBCK1):c.696C>G (p.Pro232=)
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs) rs730880330
NM_031229.4(RBCK1):c.699C>G (p.Asp233Glu) rs746724862
NM_031229.4(RBCK1):c.69T>G (p.Asp23Glu)
NM_031229.4(RBCK1):c.700G>C (p.Glu234Gln)
NM_031229.4(RBCK1):c.703G>A (p.Glu235Lys) rs201030033
NM_031229.4(RBCK1):c.709C>G (p.Arg237Gly)
NM_031229.4(RBCK1):c.710G>A (p.Arg237Gln)
NM_031229.4(RBCK1):c.71A>C (p.Glu24Ala)
NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs) rs730880329
NM_031229.4(RBCK1):c.727G>T (p.Glu243Ter) rs727503765
NM_031229.4(RBCK1):c.738G>T (p.Ala246=)
NM_031229.4(RBCK1):c.742C>A (p.Arg248Ser)
NM_031229.4(RBCK1):c.743G>A (p.Arg248His)
NM_031229.4(RBCK1):c.746A>G (p.Gln249Arg) rs763971799
NM_031229.4(RBCK1):c.754C>A (p.Gln252Lys)
NM_031229.4(RBCK1):c.756+3G>A rs146804136
NM_031229.4(RBCK1):c.757-10G>A
NM_031229.4(RBCK1):c.757-15G>C
NM_031229.4(RBCK1):c.757-6G>T
NM_031229.4(RBCK1):c.757C>T (p.Arg253Trp)
NM_031229.4(RBCK1):c.763CAG[3] (p.Gln258del) rs770767944
NM_031229.4(RBCK1):c.770A>G (p.Gln257Arg)
NM_031229.4(RBCK1):c.782A>G (p.Asn261Ser) rs377605009
NM_031229.4(RBCK1):c.790C>T (p.Gln264Ter) rs587777561
NM_031229.4(RBCK1):c.800A>G (p.Gln267Arg)
NM_031229.4(RBCK1):c.807C>G (p.Asp269Glu)
NM_031229.4(RBCK1):c.808C>G (p.Gln270Glu) rs201645896
NM_031229.4(RBCK1):c.833A>T (p.Glu278Val)
NM_031229.4(RBCK1):c.838G>A (p.Ala280Thr)
NM_031229.4(RBCK1):c.839C>T (p.Ala280Val)
NM_031229.4(RBCK1):c.845G>A (p.Cys282Tyr) rs1600298063
NM_031229.4(RBCK1):c.855C>T (p.Cys285=) rs776856644
NM_031229.4(RBCK1):c.861G>A (p.Ser287=)
NM_031229.4(RBCK1):c.876C>T (p.Gly292=) rs767353266
NM_031229.4(RBCK1):c.883G>C (p.Val295Leu)
NM_031229.4(RBCK1):c.893G>A (p.Arg298His)
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs) rs727503764
NM_031229.4(RBCK1):c.903G>T (p.Leu301=) rs1228337215
NM_031229.4(RBCK1):c.916A>C (p.Arg306=) rs1438078445
NM_031229.4(RBCK1):c.917+9C>T rs752577528
NM_031229.4(RBCK1):c.933C>T (p.Gly311=)
NM_031229.4(RBCK1):c.940C>T (p.Arg314Cys)
NM_031229.4(RBCK1):c.941G>A (p.Arg314His) rs759203606
NM_031229.4(RBCK1):c.949C>T (p.Gln317Ter)
NM_031229.4(RBCK1):c.956C>T (p.Ala319Val) rs1199811720
NM_031229.4(RBCK1):c.992C>T (p.Ser331Leu)
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu) rs143194967

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