ClinVar Miner

List of variants in gene SF3B4 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_005850.5(SF3B4):c.985T>C (p.Ser329Pro) rs200122506 0.00021
NM_005850.5(SF3B4):c.1054C>T (p.Pro352Ser)
NM_005850.5(SF3B4):c.1058C>G (p.Pro353Arg)
NM_005850.5(SF3B4):c.1147del (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1147dup (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1163del (p.Pro388fs) rs2092569095
NM_005850.5(SF3B4):c.164-1G>A rs797044869
NM_005850.5(SF3B4):c.250A>G (p.Ile84Val)
NM_005850.5(SF3B4):c.427G>A (p.Gly143Ser)
NM_005850.5(SF3B4):c.475A>G (p.Ile159Val)
NM_005850.5(SF3B4):c.535A>T (p.Lys179Ter) rs2092591227
NM_005850.5(SF3B4):c.602T>C (p.Leu201Pro)
NM_005850.5(SF3B4):c.707G>T (p.Gly236Val)
NM_005850.5(SF3B4):c.995A>C (p.Gln332Pro)

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