ClinVar Miner

List of variants reported as benign for chondrodysplasia with joint dislocations, gPAPP type by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_017813.5(BPNT2):c.*5505A>G rs8718 0.88544
NM_017813.5(BPNT2):c.*2288G>A rs1396115 0.20806
NM_017813.5(BPNT2):c.*4430A>G rs1396117 0.20487
NM_017813.5(BPNT2):c.*3673A>G rs16921462 0.20469
NM_017813.5(BPNT2):c.*4209G>A rs1396116 0.20461
NM_017813.5(BPNT2):c.*2508T>A rs13275472 0.20438
NM_017813.5(BPNT2):c.*4890C>T rs1044731 0.13000
NM_017813.5(BPNT2):c.-125C>T rs1057409 0.12976
NM_017813.5(BPNT2):c.*764C>T rs10003 0.12312
NM_017813.5(BPNT2):c.*782G>A rs1046643 0.06897
NM_017813.5(BPNT2):c.*701C>T rs1046636 0.06481
NM_017813.5(BPNT2):c.*3204A>G rs3739364 0.06242
NM_017813.5(BPNT2):c.-169C>T rs1057407 0.05592
NM_017813.5(BPNT2):c.*5512T>C rs9315 0.02271
NM_017813.5(BPNT2):c.*5014A>G rs111729642 0.01835
NM_017813.5(BPNT2):c.*2608A>C rs17188824 0.01262
NM_017813.5(BPNT2):c.856A>G (p.Lys286Glu) rs112433249 0.00905
NM_017813.5(BPNT2):c.*5730A>G rs80163062 0.00869
NM_017813.5(BPNT2):c.*2631A>G rs151168258 0.00786
NM_017813.5(BPNT2):c.*2382A>G rs115921469 0.00782
NM_017813.5(BPNT2):c.*147C>T rs138038024 0.00591
NM_017813.5(BPNT2):c.*358G>A rs141905474 0.00129
NM_017813.5(BPNT2):c.*3637C>G rs144160061

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