List of variants reported as likely pathogenic for Autosomal recessive multiple pterygium syndrome

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)	rs777219451	0.00001
NM_005199.5(CHRNG):c.257G>A (p.Arg86His)	rs550521607	0.00001
NM_005199.5(CHRNG):c.351-2A>G	rs751234287	0.00001
NM_005199.5(CHRNG):c.351-9T>C	rs764382582	0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys)	rs121912670	0.00001
NM_005199.5(CHRNG):c.1010_1011del (p.His337fs)
NM_005199.5(CHRNG):c.1366_1367del (p.His457fs)	rs1309599304
NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu)	rs1404744271
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly)	rs267606726
NM_005199.5(CHRNG):c.613G>T (p.Glu205Ter)	rs2106221597
NM_005199.5(CHRNG):c.895T>A (p.Ser299Thr)	rs2106221995

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