ClinVar Miner

Variants in gene SBF1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP gnomAD frequency
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr) rs202049257 0.00229
NM_002972.4(SBF1):c.2650C>G (p.Leu884Val) rs202055128 0.00136
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met) rs188976869 0.00122
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp) rs201399007 0.00091
NM_002972.4(SBF1):c.898-4G>A rs377428323 0.00088
NM_002972.4(SBF1):c.3760C>T (p.Arg1254Cys) rs200180227 0.00077
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) rs202156491 0.00058
NM_002972.4(SBF1):c.5197C>T (p.Arg1733Cys) rs199972466 0.00057
NM_002972.4(SBF1):c.142-3C>T rs191369963 0.00038
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) rs202149945 0.00036
NM_002972.4(SBF1):c.3147-8G>C rs182956712 0.00030
NM_002972.4(SBF1):c.2464G>A (p.Val822Ile) rs201061231 0.00022
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln) rs199783239 0.00021
NM_002972.4(SBF1):c.1637-5C>T rs377462059 0.00019
NM_002972.4(SBF1):c.3985G>A (p.Ala1329Thr) rs372950672 0.00016
NM_002972.4(SBF1):c.5043+4C>T rs373050155 0.00003
NM_002972.4(SBF1):c.2871G>A (p.Pro957=) rs757816344 0.00002
NM_002972.4(SBF1):c.1333-6C>G rs781476014
NM_002972.4(SBF1):c.3689-9C>A
NM_002972.4(SBF1):c.5311C>T (p.Arg1771Cys) rs138127298
NM_002972.4(SBF1):c.738C>T (p.Leu246=) rs374299843

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