ClinVar Miner

List of variants in gene BPNT2 reported as likely benign for chondrodysplasia with joint dislocations, gPAPP type

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_017813.5(BPNT2):c.*1651G>A rs146906987 0.01160
NM_017813.5(BPNT2):c.*5634A>G rs111509692 0.00530
NM_017813.5(BPNT2):c.*5492G>A rs113019850 0.00526
NM_017813.5(BPNT2):c.*1276A>G rs75984016 0.00408
NM_017813.5(BPNT2):c.*1693A>C rs182912899 0.00408
NM_017813.5(BPNT2):c.*4973G>T rs150852896 0.00408
NM_017813.5(BPNT2):c.*5302C>T rs10763 0.00324
NM_017813.5(BPNT2):c.*2149G>T rs187763974 0.00228
NM_017813.5(BPNT2):c.*2190G>A rs150450513 0.00199
NM_017813.5(BPNT2):c.*3704A>G rs114035514 0.00196
NM_017813.5(BPNT2):c.939G>A (p.Gly313=) rs112201304 0.00193
NM_017813.5(BPNT2):c.964G>A (p.Glu322Lys) rs76235334 0.00143
NM_017813.5(BPNT2):c.*4501T>G rs549676621 0.00129
NM_017813.5(BPNT2):c.*5797C>T rs187795495 0.00110
NM_017813.5(BPNT2):c.*1966A>G rs575526913 0.00024
NM_017813.5(BPNT2):c.*4315C>T rs543846823 0.00004

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