ClinVar Miner

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

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577 0.00548
NM_030962.4(SBF2):c.777G>A (p.Pro259=) rs142261202 0.00102
NM_030962.4(SBF2):c.4111G>C (p.Val1371Leu) rs149501654 0.00074
NM_030962.4(SBF2):c.3969G>A (p.Ser1323=) rs77833016 0.00067
NM_030962.4(SBF2):c.705T>C (p.Ser235=) rs143209062 0.00033
NM_030962.4(SBF2):c.1509A>G (p.Glu503=) rs143773975 0.00030
NM_030962.4(SBF2):c.3819C>T (p.Ser1273=) rs145351367 0.00030
NM_030962.4(SBF2):c.1623G>A (p.Thr541=) rs184849947 0.00028
NM_030962.4(SBF2):c.513+18A>T rs201201683 0.00027
NM_030962.4(SBF2):c.3843A>G (p.Thr1281=) rs147597665 0.00016
NM_030962.4(SBF2):c.1812C>T (p.Asp604=) rs765658939 0.00015
NM_030962.4(SBF2):c.280-5T>C rs368118378 0.00009
NM_030962.4(SBF2):c.5526C>A (p.Ile1842=) rs376788960 0.00009
NM_030962.4(SBF2):c.946C>T (p.Leu316=) rs374841593 0.00008
NM_030962.4(SBF2):c.1601-20T>C rs200518136 0.00004
NM_030962.4(SBF2):c.4101T>G (p.Thr1367=) rs766353139 0.00004
NM_030962.4(SBF2):c.403-15T>G rs887143579 0.00003
NM_030962.4(SBF2):c.1368G>A (p.Arg456=) rs772525525 0.00002
NM_030962.4(SBF2):c.1297-13T>C rs777737213 0.00001
NM_030962.4(SBF2):c.1854T>G (p.Thr618=) rs1224103000 0.00001
NM_030962.4(SBF2):c.78A>G (p.Lys26=) rs781552767 0.00001
NM_030962.4(SBF2):c.142-14dup rs530695547
NM_030962.4(SBF2):c.1711-9T>C rs1866612014
NM_030962.4(SBF2):c.3456-22_3456-18del rs751512324
NM_030962.4(SBF2):c.4290C>T (p.Pro1430=) rs1853958405
NM_030962.4(SBF2):c.4539C>T (p.Leu1513=) rs756073763
NM_030962.4(SBF2):c.5452-3T>C rs770176461
NM_030962.4(SBF2):c.753-16T>C rs7128234
NM_030962.4(SBF2):c.861+9T>A rs1947927028
NM_030962.4(SBF2):c.948A>C (p.Leu316=) rs772340409

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