ClinVar Miner

List of variants in gene SBF1 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_002972.4(SBF1):c.1249A>G (p.Met417Val) rs587776986
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly) rs1556430522
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)
NM_002972.4(SBF1):c.2154_2155del (p.Asp719fs) rs1569512576
NM_002972.4(SBF1):c.2605G>A (p.Val869Met) rs200365973
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val) rs1404020990
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568

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