ClinVar Miner

List of variants reported as likely pathogenic for Meckel syndrome type 3

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Total variants: 30
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HGVS dbSNP
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.5(TMEM67):c.1065+1delG rs386834181
NM_153704.5(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182
NM_153704.5(TMEM67):c.1322G>T (p.Arg441Leu) rs386834183
NM_153704.5(TMEM67):c.1336G>C (p.Asp446His) rs386834184
NM_153704.5(TMEM67):c.1413-1G>C rs386834185
NM_153704.5(TMEM67):c.1538_1539delAT (p.Tyr513Terfs) rs386834186
NM_153704.5(TMEM67):c.1575+1G>A rs386834187
NM_153704.5(TMEM67):c.161A>G (p.Tyr54Cys) rs386834188
NM_153704.5(TMEM67):c.2002T>C (p.Trp668Arg) rs386834189
NM_153704.5(TMEM67):c.224-2delA rs386834190
NM_153704.5(TMEM67):c.2301delT (p.Asp768Ilefs) rs386834191
NM_153704.5(TMEM67):c.2322+2dupT rs386834192
NM_153704.5(TMEM67):c.2357G>A (p.Gly786Glu) rs386834193
NM_153704.5(TMEM67):c.2528A>G (p.Tyr843Cys) rs386834194
NM_153704.5(TMEM67):c.2542G>T (p.Glu848Ter) rs386834195
NM_153704.5(TMEM67):c.2557A>T (p.Lys853Ter) rs386834196
NM_153704.5(TMEM67):c.2561dupA (p.Asn854Lysfs) rs386834197
NM_153704.5(TMEM67):c.2689_2690insTA (p.Lys897Ilefs) rs386834198
NM_153704.5(TMEM67):c.2897T>C (p.Leu966Pro) rs386834199
NM_153704.5(TMEM67):c.383_384delAC (p.His128Leufs) rs386834200
NM_153704.5(TMEM67):c.387T>A (p.Cys129Ter) rs386834201
NM_153704.5(TMEM67):c.579_580delAG (p.Gly195Ilefs) rs386834202
NM_153704.5(TMEM67):c.579delA (p.Gly195Aspfs) rs386834203
NM_153704.5(TMEM67):c.648delA (p.Val217Leufs) rs386834204
NM_153704.5(TMEM67):c.651+2T>G rs199821258
NM_153704.5(TMEM67):c.675G>A (p.Trp225Ter) rs386834205
NM_153704.5(TMEM67):c.734C>T (p.Ser245Phe) rs386834206
NM_153704.5(TMEM67):c.870-2A>G rs386834207
NM_153704.5(TMEM67):c.888G>T (p.Trp296Cys) rs386834208

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