List of variants studied for lethal multiple pterygium syndrome by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_005199.5(CHRNG):c.459dup (p.Val154fs)	rs774279192	0.00045
NM_005199.5(CHRNG):c.753_754del (p.Val253fs)	rs767503038	0.00026
NM_000751.3(CHRND):c.1390C>T (p.Arg464Ter)	rs121909507	0.00002
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_005199.5(CHRNG):c.715C>T (p.Arg239Cys)	rs121912670	0.00001
NM_000079.4(CHRNA1):c.117_133dup (p.His45fs)	rs1684052200
NM_000079.4(CHRNA1):c.686G>T (p.Arg229Leu)	rs137852809
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly)	rs267606726

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