ClinVar Miner

List of variants in gene SBF2 reported as uncertain significance by GeneDx

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.777G>A (p.Pro259=) rs142261202 0.00102
NM_030962.4(SBF2):c.4111G>C (p.Val1371Leu) rs149501654 0.00074
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg) rs199894823 0.00059
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His) rs150028248 0.00059
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330 0.00029
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00020
NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys) rs139967004 0.00014
NM_030962.4(SBF2):c.1498C>T (p.Arg500Trp) rs146366305 0.00012
NM_030962.4(SBF2):c.3574A>G (p.Thr1192Ala) rs761285334 0.00007
NM_030962.4(SBF2):c.3812G>A (p.Arg1271His) rs201249004 0.00006
NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala) rs147350002 0.00006
NM_030962.4(SBF2):c.4563A>T (p.Leu1521Phe) rs148988271 0.00005
NM_030962.4(SBF2):c.1067G>A (p.Arg356Gln) rs188588431 0.00004
NM_030962.4(SBF2):c.136G>C (p.Glu46Gln) rs878855130 0.00004
NM_030962.4(SBF2):c.3865C>T (p.Arg1289Trp) rs145107442 0.00004
NM_030962.4(SBF2):c.4038C>G (p.Ile1346Met) rs752638300 0.00004
NM_030962.4(SBF2):c.4127C>T (p.Ala1376Val) rs922840746 0.00004
NM_030962.4(SBF2):c.4523G>A (p.Arg1508His) rs770619905 0.00004
NM_030962.4(SBF2):c.257A>G (p.Tyr86Cys) rs745669920 0.00003
NM_030962.4(SBF2):c.1327G>C (p.Val443Leu) rs765958389 0.00002
NM_030962.4(SBF2):c.3733C>T (p.His1245Tyr) rs753626252 0.00002
NM_030962.4(SBF2):c.1804A>G (p.Ile602Val) rs751375939 0.00001
NM_030962.4(SBF2):c.4156C>G (p.Leu1386Val) rs771436343 0.00001
NM_030962.4(SBF2):c.1498C>G (p.Arg500Gly) rs146366305
NM_030962.4(SBF2):c.304G>T (p.Gly102Cys) rs879253916
NM_030962.4(SBF2):c.4070T>C (p.Met1357Thr) rs1554907847
NM_030962.4(SBF2):c.463C>A (p.Leu155Ile) rs1057524731
NM_030962.4(SBF2):c.479G>T (p.Cys160Phe) rs1214507322
NM_030962.4(SBF2):c.766C>A (p.Pro256Thr) rs879253987
NM_030962.4(SBF2):c.861+5G>C rs879253963

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