ClinVar Miner

List of variants in gene SBF2 reported as uncertain significance by Athena Diagnostics Inc

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Total variants: 27
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HGVS dbSNP gnomAD frequency
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.4257+6C>G rs370274486 0.00007
NM_030962.4(SBF2):c.3812G>A (p.Arg1271His) rs201249004 0.00006
NM_030962.4(SBF2):c.129G>A (p.Gln43=) rs761285505 0.00004
NM_030962.4(SBF2):c.136G>C (p.Glu46Gln) rs878855130 0.00004
NM_030962.4(SBF2):c.4523G>A (p.Arg1508His) rs770619905 0.00004
NM_030962.4(SBF2):c.56G>T (p.Gly19Val) rs375560902 0.00003
NM_030962.4(SBF2):c.1164C>T (p.His388=) rs959559753 0.00002
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu) rs762165359 0.00002
NM_030962.4(SBF2):c.109G>C (p.Asp37His) rs759977048 0.00001
NM_030962.4(SBF2):c.4247T>C (p.Ile1416Thr) rs370601742 0.00001
NM_030962.4(SBF2):c.427G>A (p.Val143Met) rs142469360 0.00001
NM_030962.4(SBF2):c.504A>T (p.Gly168=) rs781537575 0.00001
NM_030962.4(SBF2):c.1273A>C (p.Arg425=) rs1554976504
NM_030962.4(SBF2):c.1576G>C (p.Val526Leu)
NM_030962.4(SBF2):c.1618G>T (p.Val540Leu) rs201806063
NM_030962.4(SBF2):c.1622C>T (p.Thr541Met) rs372109447
NM_030962.4(SBF2):c.3456-5T>A
NM_030962.4(SBF2):c.3632C>A (p.Ser1211Tyr)
NM_030962.4(SBF2):c.3652+6C>T rs1057524041
NM_030962.4(SBF2):c.3841A>G (p.Thr1281Ala)
NM_030962.4(SBF2):c.520T>C (p.Phe174Leu)
NM_030962.4(SBF2):c.910G>A (p.Glu304Lys) rs781039677
NM_030962.4(SBF2):c.975+3A>G rs1947797052

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