ClinVar Miner

List of variants reported as likely pathogenic by UW Hindbrain Malformation Research Program,University of Washington

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Total variants: 13
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.3594+5G>A rs863225181
NM_001080522.2(CC2D2A):c.3976-3C>A rs576298659
NM_001142301.1(TMEM67):c.2079+2dup rs386834192
NM_001142301.1(TMEM67):c.2079+5del rs863225240
NM_001165927.1(MKS1):c.1359G>T (p.Arg453=) rs773269657
NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys) rs779953982
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782
NM_006346.4(PIBF1):c.1669del (p.Leu557fs) rs863225214
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_153704.5(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.5(TMEM67):c.2661+5G>A rs863225239
NM_153704.5(TMEM67):c.297G>T (p.Lys99Asn) rs797046045

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