List of variants reported as likely benign for Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_053025.4(MYLK):c.1516+16C>T	rs77590783	0.01553
NM_053025.4(MYLK):c.*945G>A	rs112095273	0.01003
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=)	rs56056823	0.00499
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln)	rs41366751	0.00406
NM_053025.4(MYLK):c.422+14G>C	rs146112057	0.00400
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg)	rs113491038	0.00235
NM_053025.4(MYLK):c.1132C>G (p.Arg378Gly)	rs11920433	0.00111
NM_053025.4(MYLK):c.373+18C>T	rs140559450	0.00078
NM_053025.4(MYLK):c.2485G>A (p.Glu829Lys)	rs370190691	0.00029
NM_053025.4(MYLK):c.4322-11G>A	rs371724615	0.00022
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg)	rs147008323	0.00015
NM_053025.4(MYLK):c.3183C>T (p.Ser1061=)	rs370194660	0.00009
NM_053025.4(MYLK):c.2070G>A (p.Thr690=)	rs141049942	0.00007
NM_053025.4(MYLK):c.3636C>T (p.Pro1212=)	rs780768361	0.00006
NM_053025.4(MYLK):c.2652G>A (p.Glu884=)	rs1314650520	0.00004
NM_053025.4(MYLK):c.4221C>A (p.Ile1407=)	rs780641277	0.00003
NM_053025.4(MYLK):c.4224C>T (p.Asn1408=)	rs149002594	0.00003
NM_053025.4(MYLK):c.963G>A (p.Lys321=)	rs1052922812	0.00002
NM_053025.4(MYLK):c.1110G>A (p.Glu370=)	rs886038986	0.00001
NM_053025.4(MYLK):c.1839G>T (p.Leu613=)	rs771131171	0.00001
NM_053025.4(MYLK):c.4710G>A (p.Ser1570=)	rs778762375	0.00001
NM_053025.4(MYLK):c.4602C>T (p.Ile1534=)	rs578009736
NM_053025.4(MYLK):c.5369-20TCT[2]	rs776729239

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