List of variants reported as likely pathogenic for Meckel syndrome, type 3 by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_153704.6(TMEM67):c.224-2del	rs386834190	0.00010
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)	rs386834202	0.00006
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)	rs386834180	0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)	rs386834182	0.00004
NM_153704.6(TMEM67):c.651+2T>G	rs199821258	0.00003
NM_153704.6(TMEM67):c.161A>G (p.Tyr54Cys)	rs386834188	0.00001
NM_153704.6(TMEM67):c.2322+2dup	rs386834192	0.00001
NM_153704.6(TMEM67):c.2528A>G (p.Tyr843Cys)	rs386834194	0.00001
NM_153704.6(TMEM67):c.387T>A (p.Cys129Ter)	rs386834201	0.00001
NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter)	rs386834205	0.00001
NM_153704.6(TMEM67):c.888G>T (p.Trp296Cys)	rs386834208	0.00001
NM_153704.6(TMEM67):c.1065+1del	rs386834181
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu)	rs386834183
NM_153704.6(TMEM67):c.1336G>C (p.Asp446His)	rs386834184
NM_153704.6(TMEM67):c.1413-1G>C	rs386834185
NM_153704.6(TMEM67):c.1538_1539del (p.Thr512_Tyr513insTer)	rs386834186
NM_153704.6(TMEM67):c.1575+1G>A	rs386834187
NM_153704.6(TMEM67):c.2002T>C (p.Trp668Arg)	rs386834189
NM_153704.6(TMEM67):c.2301del (p.Asp768fs)	rs386834191
NM_153704.6(TMEM67):c.2357G>A (p.Gly786Glu)	rs386834193
NM_153704.6(TMEM67):c.2542G>T (p.Glu848Ter)	rs386834195
NM_153704.6(TMEM67):c.2557A>T (p.Lys853Ter)	rs386834196
NM_153704.6(TMEM67):c.2561dup (p.Asn854fs)	rs386834197
NM_153704.6(TMEM67):c.2689_2690insTA (p.Lys897fs)	rs386834198
NM_153704.6(TMEM67):c.2897T>C (p.Leu966Pro)	rs386834199
NM_153704.6(TMEM67):c.383_384del (p.His128fs)	rs386834200
NM_153704.6(TMEM67):c.579del (p.Gly195fs)	rs386834203
NM_153704.6(TMEM67):c.648del (p.Val217fs)	rs386834204
NM_153704.6(TMEM67):c.734C>T (p.Ser245Phe)	rs386834206
NM_153704.6(TMEM67):c.870-2A>G	rs386834207

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