List of variants reported as likely pathogenic for Meckel syndrome, type 1 by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.417G>A (p.Glu139=)	rs386834048	0.00014
NM_017777.4(MKS1):c.1024+1G>A	rs199874059	0.00002
NM_017777.4(MKS1):c.958G>A (p.Val320Ile)	rs386834053	0.00002
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)	rs386834050	0.00001
NM_017777.4(MKS1):c.515+1G>A	rs201933838	0.00001
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)	rs386834051	0.00001
NM_017777.4(MKS1):c.1048C>G (p.Gln350Glu)	rs386834041
NM_017777.4(MKS1):c.1048C>T (p.Gln350Ter)	rs386834041
NM_017777.4(MKS1):c.1407+2del	rs386834042
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)	rs386834044
NM_017777.4(MKS1):c.1490G>A (p.Arg497Lys)	rs386834045
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)	rs386834046
NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer)	rs386834047
NM_017777.4(MKS1):c.424C>T (p.Gln142Ter)	rs386834049
NM_017777.4(MKS1):c.80+2T>C	rs386834052

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