List of variants in gene BPNT2 studied for Chondrodysplasia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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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.4123_4125del	rs143068938
NM_017813.5(BPNT2):c.*413TC[1]	rs886063016
NM_017813.5(BPNT2):c.*501TGT[1]	rs199901281
NM_017813.5(BPNT2):c.*5689dup	rs200630025
NM_017813.5(BPNT2):c.*980del	rs113846940

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