List of variants in gene CHRNG reported as likely 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: 20

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HGVS	dbSNP	gnomAD frequency
NM_005199.5(CHRNG):c.402del (p.Asp135fs)	rs768867302	0.00003
NM_005199.5(CHRNG):c.805+1G>A	rs367938116	0.00003
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)	rs777219451	0.00001
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter)	rs1559302834	0.00001
NM_005199.5(CHRNG):c.351-2A>G	rs751234287	0.00001
NM_005199.5(CHRNG):c.1035+2C>A
NM_005199.5(CHRNG):c.1035+2C>G
NM_005199.5(CHRNG):c.11dup (p.Gln5fs)
NM_005199.5(CHRNG):c.145del (p.Asp49fs)
NM_005199.5(CHRNG):c.166A>T (p.Lys56Ter)
NM_005199.5(CHRNG):c.240+1del	rs777809198
NM_005199.5(CHRNG):c.246G>A (p.Trp82Ter)
NM_005199.5(CHRNG):c.249C>A (p.Cys83Ter)
NM_005199.5(CHRNG):c.2T>C (p.Met1Thr)
NM_005199.5(CHRNG):c.350+2T>C
NM_005199.5(CHRNG):c.532_533del (p.Glu177_Ile178insTer)	rs2469750351
NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys)	rs1574645121
NM_005199.5(CHRNG):c.754del (p.Cys252fs)
NM_005199.5(CHRNG):c.794T>G (p.Leu265Arg)	rs2469751477
NM_005199.5(CHRNG):c.920+2_920+5del

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