List of variants reported as likely pathogenic for Lethal multiple pterygium syndrome

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000751.3(CHRND):c.821-2A>C	rs762875734	0.00014
NM_000751.3(CHRND):c.1252+1G>A	rs1285705072	0.00004
NM_000079.4(CHRNA1):c.1A>G (p.Met1Val)	rs146464862	0.00003
NM_000751.3(CHRND):c.127C>T (p.Arg43Trp)	rs55868108	0.00002
NM_005476.7(GNE):c.32G>A (p.Arg11Gln)	rs1401082365	0.00002
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)	rs779169597	0.00001
NM_000079.4(CHRNA1):c.779-1_779insA	rs771260711	0.00001
NM_000751.3(CHRND):c.1007G>A (p.Arg336Gln)	rs375623674	0.00001
NM_000751.3(CHRND):c.243+1G>A	rs751237539	0.00001
NC_000002.11:g.(?_233396141)_(233398358_?)del
NM_000079.4(CHRNA1):c.44-1G>A
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val)	rs137852805
NM_000079.4(CHRNA1):c.778+2T>A
NM_000751.3(CHRND):c.1374_1375del (p.Lys459fs)	rs1060499782
NM_000751.3(CHRND):c.423G>C (p.Trp141Cys)
NM_000751.3(CHRND):c.866C>T (p.Ser289Phe)	rs121909502
NM_000751.3(CHRND):c.932+2T>A
NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys)	rs1574645121
NM_005199.5(CHRNG):c.794T>G (p.Leu265Arg)

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