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

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_013444.4(UBQLN2):c.1319C>T (p.Pro440Leu)	rs763131369	0.00001
NM_000474.4(TWIST1):c.352C>G (p.Arg118Gly)	rs1554442015
NM_000541.5(SAG):c.398C>T (p.Ser133Leu)	rs1324934886
NM_001378328.1(CELSR1):c.2042del (p.Asn681fs)	rs1569226110
NM_001378328.1(CELSR1):c.5702-1G>C	rs1569133268
NM_001378328.1(CELSR1):c.868G>T (p.Glu290Ter)	rs1569227576
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_024649.5(BBS1):c.46A>T (p.Ser16Cys)	rs772917364
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys)	rs771325212
NM_170784.3(MKKS):c.1235G>T (p.Cys412Phe)	rs1396840386

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