ClinVar Miner

List of variants in gene BPNT2 reported as uncertain significance for chondrodysplasia

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_017813.5(BPNT2):c.*1220G>A rs143679493 0.00013
NM_017813.5(BPNT2):c.*5142G>T rs777098357 0.00012
NM_017813.5(BPNT2):c.*2417C>T rs886063008 0.00005
NM_017813.5(BPNT2):c.*1127_*1133del rs886063014
NM_017813.5(BPNT2):c.*1313del rs199907097
NM_017813.5(BPNT2):c.*2320ATA[1] rs550189601
NM_017813.5(BPNT2):c.*286_*288delinsTATGAGTCACCATTGACTCATTGTTATGAGT rs886063017
NM_017813.5(BPNT2):c.*3811GTCT[1] rs751680074
NM_017813.5(BPNT2):c.*413TC[1] rs886063016

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