ClinVar Miner

List of variants in gene RBCK1 reported as benign for connective tissue disorder

Included ClinVar conditions (343):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_031229.4(RBCK1):c.168-242C>T rs6115906 0.81688
NM_031229.4(RBCK1):c.918-61A>G rs2057251 0.72369
NM_031229.4(RBCK1):c.22+33C>T rs3746792 0.44804
NM_031229.4(RBCK1):c.1029+39C>G rs6051905 0.32396
NM_031229.4(RBCK1):c.261+15G>T rs11698154 0.14404
NM_031229.4(RBCK1):c.144G>A (p.Glu48=) rs41281892 0.03013
NM_031229.4(RBCK1):c.757-15G>C rs200457271 0.00970
NM_031229.4(RBCK1):c.756+3G>A rs146804136 0.00350
NM_031229.4(RBCK1):c.168-20G>T rs149174797 0.00153
NM_031229.4(RBCK1):c.1030-18G>A rs369024234 0.00092
NM_031229.4(RBCK1):c.1453-10C>T rs112086441 0.00086
NM_031229.4(RBCK1):c.150C>T (p.Ser50=) rs149008463 0.00081
NM_031229.4(RBCK1):c.1257C>T (p.Ala419=) rs151306710 0.00070
NM_031229.4(RBCK1):c.957G>A (p.Ala319=) rs148685980 0.00014
NM_031229.4(RBCK1):c.1308+20G>A rs141923181 0.00010
NM_031229.4(RBCK1):c.738G>T (p.Ala246=) rs2281553 0.00008
NM_031229.4(RBCK1):c.1209+24del
NM_031229.4(RBCK1):c.282C>T (p.Phe94=) rs753580979
NM_031229.4(RBCK1):c.583-17G>C
NM_031229.4(RBCK1):c.917+11dup

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