List of variants studied for arthrogryposis multiplex congenita by GenomeConnect - Invitae Patient Insights Network

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser)	rs55826142	0.00116
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)	rs144797744	0.00034
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys)	rs142593312	0.00011
NM_005592.4(MUSK):c.1360G>A (p.Asp454Asn)	rs202239254	0.00001
NM_005592.4(MUSK):c.1874G>A (p.Arg625Lys)	rs2077900685
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)	rs606231128

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