ClinVar Miner

List of variants in gene SBF1 reported as benign for Charcot-Marie-Tooth disease, type 4B3

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Total variants: 18
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NM_002972.4(SBF1):c.1570A>T (p.Met524Leu) rs149528827
NM_002972.4(SBF1):c.1947T>A (p.Pro649=) rs180800708
NM_002972.4(SBF1):c.2106G>A (p.Thr702=)
NM_002972.4(SBF1):c.2127+4C>T rs151027707
NM_002972.4(SBF1):c.2712G>C (p.Leu904=) rs114880473
NM_002972.4(SBF1):c.296A>C (p.Glu99Ala) rs148021361
NM_002972.4(SBF1):c.3339C>T (p.Ser1113=) rs149160974
NM_002972.4(SBF1):c.3561C>T (p.Tyr1187=)
NM_002972.4(SBF1):c.3827-4T>C rs114603288
NM_002972.4(SBF1):c.3904+5C>G rs115032856
NM_002972.4(SBF1):c.3987G>A (p.Ala1329=) rs5771001
NM_002972.4(SBF1):c.4020C>T (p.Pro1340=) rs79468232
NM_002972.4(SBF1):c.4813-18C>T rs41281541
NM_002972.4(SBF1):c.4833C>T (p.Asn1611=) rs199573140
NM_002972.4(SBF1):c.5539A>G (p.Thr1847Ala) rs192771726
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=) rs146489206

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