ClinVar Miner

List of variants studied for chondrodysplasia with joint dislocations, gPAPP type by OMIM

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_017813.5(BPNT2):c.324del (p.Ser108fs) rs724160003
NM_017813.5(BPNT2):c.529G>A (p.Asp177Asn) rs387907101
NM_017813.5(BPNT2):c.547A>C (p.Thr183Pro) rs387907102
NM_017813.5(BPNT2):c.559C>T (p.Arg187Ter) rs387907103

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