List of variants in gene CHRND reported as likely pathogenic for lethal multiple pterygium syndrome

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

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000751.3(CHRND):c.821-2A>C	rs762875734	0.00014
NM_000751.3(CHRND):c.1252+1G>A	rs1285705072	0.00004
NM_000751.3(CHRND):c.127C>T (p.Arg43Trp)	rs55868108	0.00002
NM_000751.3(CHRND):c.1007G>A (p.Arg336Gln)	rs375623674	0.00001
NM_000751.3(CHRND):c.243+1G>A	rs751237539	0.00001
NC_000002.11:g.(?_233396141)_(233398358_?)del
NM_000751.3(CHRND):c.1374_1375del (p.Lys459fs)	rs1060499782
NM_000751.3(CHRND):c.423G>C (p.Trp141Cys)
NM_000751.3(CHRND):c.866C>T (p.Ser289Phe)	rs121909502
NM_000751.3(CHRND):c.932+2T>A

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