ClinVar Miner

List of variants in gene SBF1 reported as benign by Invitae

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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_002972.4(SBF1):c.5559T>C (p.Thr1853=) rs1053744 0.52056
NM_002972.4(SBF1):c.3987G>A (p.Ala1329=) rs5771001 0.20075
NM_002972.4(SBF1):c.3561C>T (p.Tyr1187=) rs58335489 0.08274
NM_002972.4(SBF1):c.55+7G>A rs144873419 0.08007
NM_002972.4(SBF1):c.1749+7G>A rs5771041 0.07624
NM_002972.4(SBF1):c.291C>T (p.Arg97=) rs6010103 0.07467
NM_002972.4(SBF1):c.2106G>A (p.Thr702=) rs5771037 0.06512
NM_002972.4(SBF1):c.4020C>T (p.Pro1340=) rs79468232 0.05085
NM_002972.4(SBF1):c.2175C>T (p.Asp725=) rs73441480 0.03333
NM_002972.4(SBF1):c.3006C>T (p.Asp1002=) rs77064034 0.01961
NM_002972.4(SBF1):c.55+9C>T rs184600817 0.01375
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.3818G>A (p.Gly1273Asp) rs147879775 0.01020
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.296A>C (p.Glu99Ala) rs148021361 0.00573
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.603C>T (p.Ala201=) rs186499345 0.00374
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.1058C>T (p.Pro353Leu) rs185916020 0.00271
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.1968+15G>A rs41281539 0.00224
NM_002972.4(SBF1):c.1872C>T (p.Val624=) rs114559495 0.00215
NM_002972.4(SBF1):c.3827-6C>T rs560389614 0.00215
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.1089+19C>T rs149841428 0.00185
NM_002972.4(SBF1):c.5109G>A (p.Arg1703=) rs188837124 0.00166
NM_002972.4(SBF1):c.3403C>T (p.Leu1135=) rs375181100 0.00150
NM_002972.4(SBF1):c.1333-4dup rs138346146 0.00149
NM_002972.4(SBF1):c.1095G>A (p.Lys365=) rs146830316 0.00145
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=) rs373529561 0.00144
NM_002972.4(SBF1):c.1203+10C>T rs181592998 0.00135
NM_002972.4(SBF1):c.5463C>T (p.Tyr1821=) rs144773853 0.00131
NM_002972.4(SBF1):c.2643+15T>C rs371069133 0.00116
NM_002972.4(SBF1):c.3147-11G>A rs73891245 0.00108
NM_002972.4(SBF1):c.3765C>T (p.Tyr1255=) rs201985055 0.00100
NM_002972.4(SBF1):c.3856C>T (p.Leu1286=) rs139035064 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.1089+15T>C rs570283409 0.00079
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.2370C>T (p.Ser790=) rs112764601 0.00064
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.3492-19C>T rs140467558 0.00034
NM_002972.4(SBF1):c.3309G>A (p.Thr1103=) rs201348990 0.00030
NM_002972.4(SBF1):c.2136G>T (p.Gly712=) rs562115984 0.00028
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.3345C>T (p.Arg1115=) rs373671262 0.00020
NM_002972.4(SBF1):c.788+10G>A rs372317099 0.00019
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.412C>A (p.Arg138=) rs368625733 0.00009
NM_002972.4(SBF1):c.3648T>G (p.Gly1216=) rs568299948 0.00005
NM_002972.4(SBF1):c.56-17C>T rs368728157 0.00005
NM_002972.4(SBF1):c.3774G>A (p.Ala1258=) rs376842263 0.00004
NM_002972.4(SBF1):c.3801C>T (p.Phe1267=) rs536216296 0.00004
NM_002972.4(SBF1):c.55+13G>A rs528062695 0.00004
NM_002972.4(SBF1):c.2256G>A (p.Thr752=) rs377099628 0.00003
NM_002972.4(SBF1):c.3663C>T (p.Phe1221=) rs528350225 0.00001
NM_002972.4(SBF1):c.5172T>G (p.Leu1724=) rs372972821 0.00001
NM_002972.4(SBF1):c.1056G>A (p.Pro352=) rs145862488
NM_002972.4(SBF1):c.141+10_141+12del rs552527272
NM_002972.4(SBF1):c.141+14G>A rs371153930
NM_002972.4(SBF1):c.2396+7_2396+18del rs570055395
NM_002972.4(SBF1):c.2569+16C>T rs79074954
NM_002972.4(SBF1):c.2644-6G>C rs540628178
NM_002972.4(SBF1):c.2967+16C>T rs369279620
NM_002972.4(SBF1):c.2967+9C>T rs115010488
NM_002972.4(SBF1):c.2968-11del rs2148586521
NM_002972.4(SBF1):c.5452-13_5452-12del rs56853707
NM_002972.4(SBF1):c.550-20C>T rs190494661
NM_002972.4(SBF1):c.5583+12dup rs199991995

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