List of variants studied for autosomal recessive multiple pterygium syndrome by OMIM

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002470.4(MYH3):c.-9+1G>A	rs557849165	0.00117
NM_005199.5(CHRNG):c.459dup (p.Val154fs)	rs774279192	0.00048
NM_005199.5(CHRNG):c.753_754del (p.Val253fs)	rs767503038	0.00026
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter)	rs121912672	0.00001
NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter)	rs121912671	0.00001
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg)	rs765746795	0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys)	rs121912670	0.00001
NM_002470.4(MYH3):c.1141+131_3256del
NM_002470.4(MYH3):c.141T>G (p.Tyr47Ter)	rs1567564042
NM_002470.4(MYH3):c.4647+1G>A	rs1567552713
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter)	rs267606725
NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup)	rs863223313
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly)	rs267606726

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