List of variants studied for Congenital nonprogressive myopathy with Moebius and Robin sequences

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001080483.3(MYMK):c.136-43T>C	rs9802273	0.75635
NM_001080483.3(MYMK):c.534T>C (p.Tyr178=)	rs17758315	0.62537
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)	rs137868995	0.00125
NM_001080483.3(MYMK):c.298G>A (p.Gly100Ser)	rs964335184	0.00001
NM_001080483.3(MYMK):c.305T>C (p.Leu102Pro)	rs1432065625	0.00001
NM_001080483.3(MYMK):c.399+5G>A	rs755976471	0.00001
NM_001080483.3(MYMK):c.482_483insCCCA (p.Ala162fs)	rs1386322306	0.00001
NM_001080483.3(MYMK):c.136-27T>C	rs9802272
NM_001080483.3(MYMK):c.2T>A (p.Met1Lys)	rs1131692248
NM_001080483.3(MYMK):c.461T>C (p.Ile154Thr)	rs1131692249
NM_001080483.3(MYMK):c.481G>C (p.Gly161Arg)	rs766698870
NM_001080483.3(MYMK):c.535G>A (p.Val179Ile)	rs767627055
NM_001080483.3(MYMK):c.553T>C (p.Cys185Arg)	rs1131692247

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