ClinVar Miner

List of variants reported as likely pathogenic for X-linked chondrodysplasia punctata by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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NM_000047.2(ARSL):c.337C>T (p.Leu113Phe) rs145946864
NM_006579.3(EBP):c.201_203dup (p.Cys67dup) rs797045542
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.299T>C (p.Leu100Pro) rs587783605
NM_006579.3(EBP):c.303G>T (p.Trp101Cys) rs587783607
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.331T>C (p.Tyr111His) rs587783614
NM_006579.3(EBP):c.369_379delinsAG (p.Ile124_Cys127delinsGly) rs797045545
NM_006579.3(EBP):c.481G>A (p.Gly161Arg) rs587783617
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556
NM_006579.3(EBP):c.527A>G (p.His176Arg) rs587783618
NM_006579.3(EBP):c.632T>G (p.Leu211Arg) rs587783619
NM_015922.3(NSDHL):c.1114del (p.Val372fs) rs587784222
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys) rs587784223
NM_015922.3(NSDHL):c.727G>A (p.Val243Met) rs587784224

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