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

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_000751.3(CHRND):c.730C>T (p.Arg244Cys)	rs376642208	0.00003
NM_000751.3(CHRND):c.1390C>T (p.Arg464Ter)	rs121909507	0.00002
NM_000751.3(CHRND):c.1006C>T (p.Arg336Ter)	rs754087173	0.00001
NM_000751.3(CHRND):c.234G>A (p.Trp78Ter)	rs121909505	0.00001
NM_000751.3(CHRND):c.283T>C (p.Phe95Leu)	rs121909506	0.00001
NM_000751.3(CHRND):c.521_524dup (p.Ala176fs)	rs1574630951	0.00001
NM_000751.3(CHRND):c.628G>T (p.Glu210Ter)	rs1417363003	0.00001
NM_000751.3(CHRND):c.769T>C (p.Cys257Arg)	rs776218605	0.00001
NC_000002.11:g.(?_233390926)_(233400022_?)del
NM_000751.3(CHRND):c.1107del (p.Ser370fs)	rs1223709952
NM_000751.3(CHRND):c.211del (p.Glu71fs)	rs775873824
NM_000751.3(CHRND):c.247_251dup (p.Asp85fs)
NM_000751.3(CHRND):c.248G>A (p.Trp83Ter)	rs2106208285
NM_000751.3(CHRND):c.249del (p.Gly82_Trp83insTer)	rs1383559519
NM_000751.3(CHRND):c.2T>C (p.Met1Thr)	rs750174953
NM_000751.3(CHRND):c.316dup (p.Asp106fs)	rs2469718292
NM_000751.3(CHRND):c.36del (p.Ala13fs)	rs2469712512
NM_000751.3(CHRND):c.389A>T (p.Asn130Ile)	rs1553574327
NM_000751.3(CHRND):c.59G>A (p.Trp20Ter)	rs764374927
NM_000751.3(CHRND):c.677_766delinsGGGT (p.Ala226fs)	rs2469723376
NM_000751.3(CHRND):c.820_820+1del	rs879255564
NM_000751.3(CHRND):c.88del (p.Arg30fs)	rs1266948051
NM_000751.3(CHRND):c.95del (p.Leu32fs)
NM_000751.3(CHRND):c.982_983del (p.Val328fs)	rs1691699883

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