ClinVar Miner

List of variants in gene EBP studied for X-linked chondrodysplasia punctata

Included ClinVar conditions (3):
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Total variants: 44
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HGVS dbSNP
NM_006579.3(EBP):c.141G>T (p.Trp47Cys) rs587783599
NM_006579.3(EBP):c.182G>A (p.Trp61Ter) rs587783600
NM_006579.3(EBP):c.187C>T (p.Arg63Ter) rs104894799
NM_006579.3(EBP):c.201_203dup (p.Cys67dup) rs797045542
NM_006579.3(EBP):c.203G>A (p.Trp68Ter)
NM_006579.3(EBP):c.204G>T (p.Trp68Cys) rs587783601
NM_006579.3(EBP):c.214T>C (p.Cys72Arg) rs587783602
NM_006579.3(EBP):c.218G>A (p.Gly73Glu) rs587783603
NM_006579.3(EBP):c.225dup (p.His76fs) rs797045543
NM_006579.3(EBP):c.238G>A (p.Glu80Lys) rs104894800
NM_006579.3(EBP):c.261C>G (p.Tyr87Ter) rs145509273
NM_006579.3(EBP):c.292_296del (p.Ser98fs) rs587783604
NM_006579.3(EBP):c.299T>C (p.Leu100Pro) rs587783605
NM_006579.3(EBP):c.301+2T>A rs587783606
NM_006579.3(EBP):c.303G>T (p.Trp101Cys) rs587783607
NM_006579.3(EBP):c.304A>T (p.Lys102Ter) rs587783608
NM_006579.3(EBP):c.310T>C (p.Tyr104His) rs587783609
NM_006579.3(EBP):c.311A>G (p.Tyr104Cys) rs587783610
NM_006579.3(EBP):c.314C>A (p.Ala105Asp) rs587783611
NM_006579.3(EBP):c.320G>A (p.Gly107Glu) rs587783612
NM_006579.3(EBP):c.328C>T (p.Arg110Ter) rs587783613
NM_006579.3(EBP):c.329G>A (p.Arg110Gln) rs1602090481
NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter) rs797045544
NM_006579.3(EBP):c.331T>C (p.Tyr111His) rs587783614
NM_006579.3(EBP):c.338+1G>T rs1569479885
NM_006579.3(EBP):c.369_379delinsAG (p.Ile124_Cys127delinsGly) rs797045545
NM_006579.3(EBP):c.382C>T (p.Leu128=) rs142881014
NM_006579.3(EBP):c.386G>A (p.Trp129Ter) rs104894792
NM_006579.3(EBP):c.390del (p.Pro131fs) rs1569479901
NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs) rs797045546
NM_006579.3(EBP):c.440G>A (p.Arg147His) rs28935174
NM_006579.3(EBP):c.464_465del (p.Ser155fs) rs587783615
NM_006579.3(EBP):c.480T>G (p.Tyr160Ter) rs587783616
NM_006579.3(EBP):c.481G>A (p.Gly161Arg) rs587783617
NM_006579.3(EBP):c.484dup (p.Asp162fs) rs797045547
NM_006579.3(EBP):c.506_507del (p.Glu169fs) rs1602091152
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556
NM_006579.3(EBP):c.523C>T (p.Gln175Ter) rs104894793
NM_006579.3(EBP):c.527A>G (p.His176Arg) rs587783618
NM_006579.3(EBP):c.586_587insA (p.Trp196Ter) rs1569480016
NM_006579.3(EBP):c.587G>A (p.Trp196Ter) rs104894794
NM_006579.3(EBP):c.632T>G (p.Leu211Arg) rs587783619
NM_006579.3(EBP):c.684GAA[1] (p.Lys229del) rs587783620
NM_006579.3(EBP):c.87G>A (p.Trp29Ter) rs104894798

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