List of variants in gene CKAP2L reported as likely pathogenic for polydactyly-syndactyly-triphalangism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_152515.5(CKAP2L):c.1092_1093del (p.Gln364fs)	rs755184431
NM_152515.5(CKAP2L):c.1604G>A (p.Gly535Asp)
NM_152515.5(CKAP2L):c.501del (p.Asn167fs)	rs2104884982
NM_152515.5(CKAP2L):c.552_555del (p.Asn184fs)	rs778989224

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