ClinVar Miner

List of variants studied for multiple sclerosis, susceptibility to 1

Included ClinVar conditions (2):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001286398.3(RNF217):c.1370G>A (p.Arg457His) rs73580047 0.00542
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu) rs139131485 0.00036
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys) rs767480544 0.00001
HLA-DRB1, DRB1*1501
NM_000785.4(CYP27B1):c.1052T>C (p.Leu351Pro)
NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro) rs568165874
NM_002124.4(HLA-DRB1):c.124_127delinsTATA (p.Arg42_Glu43delinsTyrLys)
NM_002124.4(HLA-DRB1):c.125_127del (p.Arg42_Glu43delinsLys)
NM_002124.4(HLA-DRB1):c.764-2A>G

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