List of variants reported as likely pathogenic for Lethal multiple pterygium syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000079.4(CHRNA1):c.1A>G (p.Met1Val)	rs146464862	0.00003
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)	rs779169597	0.00001
NM_005199.5(CHRNG):c.351-2A>G	rs751234287	0.00001
NM_000079.4(CHRNA1):c.44-1G>A	rs1574011727
NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys)	rs1574645121
NM_005199.5(CHRNG):c.794T>G (p.Leu265Arg)	rs2469751477

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