ClinVar Miner

List of variants in gene SF3B2 studied for neurocristopathy

Included ClinVar conditions (167):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006842.3(SF3B2):c.1780-2del rs2135050433
NM_006842.3(SF3B2):c.180+2T>C
NM_006842.3(SF3B2):c.1912C>T (p.Arg638Ter) rs2135051009
NM_006842.3(SF3B2):c.1997A>C (p.His666Pro) rs1057519959
NM_006842.3(SF3B2):c.1A>T (p.Met1Leu) rs2135031513
NM_006842.3(SF3B2):c.2321C>T (p.Ala774Val)
NM_006842.3(SF3B2):c.664C>T (p.Arg222Ter)

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