List of variants reported as likely pathogenic for Nemaline myopathy 2; Arthrogryposis multiplex congenita 6

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	rs549794342	0.00061
NM_001164508.2(NEB):c.24114+1G>A	rs755239192	0.00009
NM_001164508.2(NEB):c.18472-1G>C	rs1203257517	0.00003
NM_001164508.2(NEB):c.18891+1G>A	rs1443738549	0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs)	rs786204430	0.00001
NM_001164508.2(NEB):c.17828del (p.Asn5943fs)	rs1560031341
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs)	rs747282057
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs)	rs1553561211
NM_001164508.2(NEB):c.25297+1G>A	rs113525641
NM_001164508.2(NEB):c.4507-1G>A	rs2154185810
NM_001164508.2(NEB):c.4623del (p.Ala1542fs)	rs1559039815
NM_001164508.2(NEB):c.5343+5G>A	rs2154175371
NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter)	rs2154134234
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs)	rs878854368

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