ClinVar Miner

List of variants reported as likely pathogenic by New Leaf Center

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Total variants: 11
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HGVS dbSNP
NM_001273.5(CHD4):c.2366A>T (p.Asn789Ile)
NM_018365.4(MNS1):c.407_410del (p.Glu136fs) rs1596264554
NM_020843.4(SCAPER):c.1116del (p.Val373fs) rs1598632432
NM_020843.4(SCAPER):c.1495+1G>A rs1598598205
NM_020843.4(SCAPER):c.2166-3C>G rs1598279469
NM_020843.4(SCAPER):c.2179C>T (p.Arg727Ter) rs978336151
NM_020843.4(SCAPER):c.2236dup (p.Ile746fs) rs1462082548
NM_020843.4(SCAPER):c.2377C>T (p.Gln793Ter) rs1239725461
NM_020843.4(SCAPER):c.3224del (p.Pro1075fs) rs1596596355
NM_020843.4(SCAPER):c.3707_3708del (p.Ser1236fs) rs1303625185
NM_020843.4(SCAPER):c.829C>T (p.Arg277Ter) rs1484749107

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