ClinVar Miner

List of variants in gene SBF1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_002972.4(SBF1):c.4020C>T (p.Pro1340=) rs79468232 0.05085
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.3339C>T (p.Ser1113=) rs149160974 0.00612
NM_002972.4(SBF1):c.296A>C (p.Glu99Ala) rs148021361 0.00573
NM_002972.4(SBF1):c.1947T>A (p.Pro649=) rs180800708 0.00425
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.4927C>A (p.Pro1643Thr) rs202049257 0.00229
NM_002972.4(SBF1):c.1968+15G>A rs41281539 0.00224
NM_002972.4(SBF1):c.868G>A (p.Ala290Thr) rs201776298 0.00222
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.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.2785G>A (p.Val929Ile) rs370463792 0.00125
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met) rs188976869 0.00122
NM_002972.4(SBF1):c.3765C>T (p.Tyr1255=) rs201985055 0.00100
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp) rs201399007 0.00091
NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly) rs200718883 0.00088
NM_002972.4(SBF1):c.898-4G>A rs377428323 0.00088
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His) rs147869659 0.00084
NM_002972.4(SBF1):c.3760C>T (p.Arg1254Cys) rs200180227 0.00077
NM_002972.4(SBF1):c.55G>C (p.Gly19Arg) rs765666942 0.00075
NM_002972.4(SBF1):c.2034G>A (p.Thr678=) rs139798340 0.00066
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) rs202156491 0.00058
NM_002972.4(SBF1):c.3905-9C>T rs574807761 0.00053
NM_002972.4(SBF1):c.549+10G>A rs187441948 0.00043
NM_002972.4(SBF1):c.1432-12G>A rs377210668 0.00040
NM_002972.4(SBF1):c.2569+4C>T rs200379541 0.00039
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.5022C>T (p.Asp1674=) rs570393243 0.00035
NM_002972.4(SBF1):c.4517C>T (p.Thr1506Ile) rs374199797 0.00031
NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp) rs370182117 0.00027
NM_002972.4(SBF1):c.2697C>A (p.Gly899=) rs374888082 0.00024
NM_002972.4(SBF1):c.2967+8G>A rs374708421 0.00021
NM_002972.4(SBF1):c.5595G>A (p.Thr1865=) rs371139013 0.00017
NM_002972.4(SBF1):c.4007A>G (p.Asn1336Ser) rs775736052 0.00016
NM_002972.4(SBF1):c.2195G>A (p.Arg732His) rs374201600 0.00014
NM_002972.4(SBF1):c.4521C>T (p.Pro1507=) rs534889802 0.00014
NM_002972.4(SBF1):c.4724C>T (p.Pro1575Leu) rs199779197 0.00012
NM_002972.4(SBF1):c.1164C>T (p.Val388=) rs376600058 0.00011
NM_002972.4(SBF1):c.3251C>T (p.Pro1084Leu) rs749516637 0.00011
NM_002972.4(SBF1):c.4047A>T (p.Arg1349=) rs894127251 0.00011
NM_002972.4(SBF1):c.3968G>A (p.Arg1323Gln) rs746388522 0.00006
NM_002972.4(SBF1):c.4975C>T (p.Arg1659Cys) rs748396110 0.00006
NM_002972.4(SBF1):c.3399C>T (p.Leu1133=) rs367869582 0.00005
NM_002972.4(SBF1):c.2982C>T (p.Ala994=) rs571868041 0.00004
NM_002972.4(SBF1):c.219C>T (p.Ile73=) rs750211528 0.00003
NM_002972.4(SBF1):c.2737G>A (p.Ala913Thr) rs755038470 0.00003
NM_002972.4(SBF1):c.1917C>T (p.Asp639=) rs750516504 0.00002
NM_002972.4(SBF1):c.2899A>G (p.Ile967Val) rs376364128 0.00002
NM_002972.4(SBF1):c.651G>A (p.Gln217=) rs1292863100 0.00002
NM_002972.4(SBF1):c.1069A>G (p.Thr357Ala) rs746439204 0.00001
NM_002972.4(SBF1):c.3462G>T (p.Pro1154=) rs371815025 0.00001
NM_002972.4(SBF1):c.4437G>A (p.Val1479=) rs1381685044 0.00001
NM_002972.4(SBF1):c.1056G>A (p.Pro352=) rs145862488
NM_002972.4(SBF1):c.2663G>A (p.Arg888His) rs201519518
NM_002972.4(SBF1):c.2799G>A (p.Thr933=) rs774121119
NM_002972.4(SBF1):c.3873GGCCTC[3] (p.1292AS[3]) rs761546537
NM_002972.4(SBF1):c.4462C>T (p.His1488Tyr) rs1569510303
NM_002972.4(SBF1):c.5008C>T (p.Arg1670Trp) rs1158592167
NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly) rs373534319
NM_002972.4(SBF1):c.622C>A (p.Arg208Ser) rs777596406

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