ClinVar Miner

List of variants in gene SF3B1 reported as likely pathogenic for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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NM_012433.3(SF3B1):c.1996A>G (p.Lys666Glu) rs754688962
NM_012433.3(SF3B1):c.1997A>C (p.Lys666Thr) rs374250186
NM_012433.3(SF3B1):c.1997A>G (p.Lys666Arg) rs374250186
NM_012433.3(SF3B1):c.1998G>C (p.Lys666Asn) rs377023736
NM_012433.3(SF3B1):c.1998G>T (p.Lys666Asn) rs377023736
NM_012433.3(SF3B1):c.2098A>C (p.Lys700Gln) rs559063155
NM_012433.3(SF3B1):c.2098A>G (p.Lys700Glu) rs559063155
NM_012433.3(SF3B1):c.2098A>T (p.Lys700Ter) rs559063155
NM_012433.3(SF3B1):c.2099A>C (p.Lys700Thr) rs1057519756
NM_012433.3(SF3B1):c.2099A>G (p.Lys700Arg) rs1057519756
NM_012433.3(SF3B1):c.2099A>T (p.Lys700Ile) rs1057519756
NM_012433.3(SF3B1):c.2100A>C (p.Lys700Asn) rs1057519755
NM_012433.3(SF3B1):c.2100A>T (p.Lys700Asn) rs1057519755

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