ClinVar Miner

List of variants in gene LOC105369149, SBF2 studied for Charcot-Marie-Tooth disease

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.4571-6C>T rs2645029 0.88084
NM_030962.4(SBF2):c.4933-15T>C rs75447733 0.03044
NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg) rs147772705 0.00048
NM_030962.4(SBF2):c.5037C>T (p.Arg1679=) rs200784979 0.00048
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_030962.4(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255 0.00011
NM_030962.4(SBF2):c.4809C>T (p.His1603=) rs199670153 0.00010
NM_030962.4(SBF2):c.5231+14C>T rs371184526 0.00008
NM_030962.4(SBF2):c.4687T>C (p.Leu1563=) rs563878786 0.00006
NM_030962.4(SBF2):c.5007G>A (p.Val1669=) rs918725972 0.00002
NM_030962.4(SBF2):c.5410A>G (p.Met1804Val) rs755264093 0.00002
NM_030962.4(SBF2):c.4758G>A (p.Glu1586=) rs770533275 0.00001
NM_030962.4(SBF2):c.4981C>G (p.Gln1661Glu) rs1337750415 0.00001
NM_030962.4(SBF2):c.4635T>A (p.Ile1545=) rs1852679218
NM_030962.4(SBF2):c.4782T>G (p.Tyr1594Ter) rs1384571991
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832
NM_030962.4(SBF2):c.5038-9C>G rs1453213030
NM_030962.4(SBF2):c.5043A>G (p.Gln1681=) rs779654145
NM_030962.4(SBF2):c.5277T>G (p.Gly1759=) rs774505575
NM_030962.4(SBF2):c.5451+8G>C rs948210964

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