ClinVar Miner

List of variants reported as likely pathogenic by MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP

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Total variants: 11
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HGVS dbSNP
NM_000474.4(TWIST1):c.352C>G (p.Arg118Gly) rs1554442015
NM_000541.5(SAG):c.398C>T (p.Ser133Leu) rs1324934886
NM_004183.4(BEST1):c.26T>G (p.Val9Gly) rs281865205
NM_004183.4(BEST1):c.535A>G (p.Asn179Asp) rs1555099968
NM_004183.4(BEST1):c.874G>C (p.Glu292Gln) rs886039311
NM_014246.3(CELSR1):c.2042del (p.Asn681fs) rs1569226110
NM_014246.3(CELSR1):c.5702-1G>C rs1569133268
NM_014246.3(CELSR1):c.868G>T (p.Glu290Ter) rs1569227576
NM_018848.3(MKKS):c.1235G>T (p.Cys412Phe) rs1396840386
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) rs772917364
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys) rs771325212

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