ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 42
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HGVS dbSNP gnomAD frequency
NM_002972.4(SBF1):c.5539A>G (p.Thr1847Ala) rs192771726 0.01139
NM_002972.4(SBF1):c.2127+4C>T rs151027707 0.01090
NM_002972.4(SBF1):c.4368+17G>A rs116526390 0.01026
NM_002972.4(SBF1):c.1570A>T (p.Met524Leu) rs149528827 0.00850
NM_002972.4(SBF1):c.3827-4T>C rs114603288 0.00786
NM_002972.4(SBF1):c.56-5C>T rs79658113 0.00784
NM_002972.4(SBF1):c.4267-15C>T rs115969873 0.00701
NM_002972.4(SBF1):c.2712G>C (p.Leu904=) rs114880473 0.00694
NM_002972.4(SBF1):c.1980G>A (p.Pro660=) rs143643893 0.00651
NM_002972.4(SBF1):c.3339C>T (p.Ser1113=) rs149160974 0.00612
NM_002972.4(SBF1):c.4681+14C>T rs116731277 0.00503
NM_002972.4(SBF1):c.2128-17G>A rs371831385 0.00450
NM_002972.4(SBF1):c.1947T>A (p.Pro649=) rs180800708 0.00425
NM_002972.4(SBF1):c.2730G>A (p.Glu910=) rs743039 0.00421
NM_002972.4(SBF1):c.4813-18C>T rs41281541 0.00348
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122 0.00332
NM_002972.4(SBF1):c.1668T>C (p.His556=) rs139208738 0.00257
NM_002972.4(SBF1):c.898-18G>A rs369814596 0.00252
NM_002972.4(SBF1):c.4833C>T (p.Asn1611=) rs199573140 0.00247
NM_002972.4(SBF1):c.3904+5C>G rs115032856 0.00233
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser) rs199705951 0.00206
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=) rs146489206 0.00205
NM_002972.4(SBF1):c.615C>T (p.Pro205=) rs373623627 0.00194
NM_002972.4(SBF1):c.2079C>T (p.His693=) rs199672732 0.00188
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=) rs373529561 0.00144
NM_002972.4(SBF1):c.5463C>T (p.Tyr1821=) rs144773853 0.00131
NM_002972.4(SBF1):c.3765C>T (p.Tyr1255=) rs201985055 0.00100
NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly) rs200718883 0.00088
NM_002972.4(SBF1):c.1449C>T (p.Ala483=) rs116312398 0.00081
NM_002972.4(SBF1):c.3760C>T (p.Arg1254Cys) rs200180227 0.00077
NM_002972.4(SBF1):c.3654C>T (p.Val1218=) rs202068159 0.00071
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) rs202156491 0.00058
NM_002972.4(SBF1):c.4014C>A (p.Gly1338=) rs75567487 0.00035
NM_002972.4(SBF1):c.4203C>T (p.Pro1401=) rs557575486 0.00028
NM_002972.4(SBF1):c.1432-13C>T rs76515527 0.00021
NM_002972.4(SBF1):c.3284-12C>T rs199652098 0.00017
NM_002972.4(SBF1):c.1803C>T (p.Leu601=) rs372396420 0.00016
NM_002972.4(SBF1):c.2502G>A (p.Val834=) rs201203951 0.00016
NM_002972.4(SBF1):c.4521C>T (p.Pro1507=) rs534889802 0.00014
NM_002972.4(SBF1):c.3801C>T (p.Phe1267=) rs536216296 0.00004
NM_002972.4(SBF1):c.2256G>A (p.Thr752=) rs377099628 0.00003
NM_002972.4(SBF1):c.2569+16C>T rs79074954

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