ClinVar Miner

List of variants in gene SBF2 reported as likely benign for Charcot-Marie-Tooth disease

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Total variants: 42
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HGVS dbSNP
NM_030962.3(SBF2):c.1297-13T>C rs0
NM_030962.3(SBF2):c.1368G>A (p.Arg456=) rs0
NM_030962.3(SBF2):c.142-22dup rs0
NM_030962.3(SBF2):c.1509A>G (p.Glu503=) rs143773975
NM_030962.3(SBF2):c.1601-20T>C rs0
NM_030962.3(SBF2):c.1623G>A (p.Thr541=) rs184849947
NM_030962.3(SBF2):c.1711-9T>C rs0
NM_030962.3(SBF2):c.1812C>T (p.Asp604=) rs765658939
NM_030962.3(SBF2):c.1854T>G (p.Thr618=) rs1224103000
NM_030962.3(SBF2):c.280-5T>C rs368118378
NM_030962.3(SBF2):c.3456-22_3456-18del rs0
NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) rs145351367
NM_030962.3(SBF2):c.3843A>G (p.Thr1281=) rs147597665
NM_030962.3(SBF2):c.3969G>A (p.Ser1323=) rs77833016
NM_030962.3(SBF2):c.403-15T>G rs887143579
NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577
NM_030962.3(SBF2):c.4101T>G (p.Thr1367=) rs0
NM_030962.3(SBF2):c.4111G>C (p.Val1371Leu) rs149501654
NM_030962.3(SBF2):c.4290C>T (p.Pro1430=) rs0
NM_030962.3(SBF2):c.4539C>T (p.Leu1513=) rs0
NM_030962.3(SBF2):c.4635T>A (p.Ile1545=) rs0
NM_030962.3(SBF2):c.4687T>C (p.Leu1563=) rs563878786
NM_030962.3(SBF2):c.4758G>A (p.Glu1586=) rs0
NM_030962.3(SBF2):c.4809C>T (p.His1603=) rs199670153
NM_030962.3(SBF2):c.5007G>A (p.Val1669=) rs918725972
NM_030962.3(SBF2):c.5037C>T (p.Arg1679=) rs200784979
NM_030962.3(SBF2):c.5038-9C>G rs0
NM_030962.3(SBF2):c.5043A>G (p.Gln1681=) rs0
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_030962.3(SBF2):c.513+18A>T rs201201683
NM_030962.3(SBF2):c.5231+14C>T rs371184526
NM_030962.3(SBF2):c.5277T>G (p.Gly1759=) rs0
NM_030962.3(SBF2):c.5451+8G>C rs0
NM_030962.3(SBF2):c.5452-3T>C rs0
NM_030962.3(SBF2):c.5526C>A (p.Ile1842=) rs376788960
NM_030962.3(SBF2):c.705T>C (p.Ser235=) rs143209062
NM_030962.3(SBF2):c.753-16T>C rs7128234
NM_030962.3(SBF2):c.777G>A (p.Pro259=) rs142261202
NM_030962.3(SBF2):c.78A>G (p.Lys26=) rs0
NM_030962.3(SBF2):c.861+9T>A rs0
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593
NM_030962.3(SBF2):c.948A>C (p.Leu316=) rs0

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