ClinVar Miner

List of variants in gene LOC130005303, SBF2 studied for peripheral neuropathy

Included ClinVar conditions (517):
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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.-101A>C rs886047577 0.00017
NM_030962.4(SBF2):c.48G>A (p.Glu16=) rs889453292 0.00003
NM_030962.4(SBF2):c.-37G>T rs756232914 0.00002
NM_030962.4(SBF2):c.-106C>T rs886047578 0.00001
NM_030962.4(SBF2):c.-27C>T rs1032915786 0.00001
NM_030962.4(SBF2):c.-49G>A rs1476971148 0.00001
NM_030962.4(SBF2):c.-64C>T rs1010047569 0.00001
NM_030962.4(SBF2):c.20_21del (p.Tyr7fs) rs1270869520 0.00001
NM_030962.4(SBF2):c.30G>A (p.Val10=) rs1398535918 0.00001
NM_030962.4(SBF2):c.55+9G>T rs1449265617 0.00001
NM_030962.4(SBF2):c.8G>A (p.Arg3Gln) rs1964355306 0.00001
NM_030962.4(SBF2):c.23T>G (p.Phe8Cys) rs886047576
NM_030962.4(SBF2):c.38A>C (p.Tyr13Ser) rs1591380986
NM_030962.4(SBF2):c.38A>T (p.Tyr13Phe)
NM_030962.4(SBF2):c.43C>T (p.His15Tyr) rs1324706227
NM_030962.4(SBF2):c.45C>G (p.His15Gln) rs1964352895
NM_030962.4(SBF2):c.55+13G>A
NM_030962.4(SBF2):c.55+7G>A rs2133630493
NM_030962.4(SBF2):c.6C>G (p.Ala2=) rs1311980728

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