ClinVar Miner

List of variants in gene SBF2 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508 0.07978
NM_030962.4(SBF2):c.1408C>A (p.Pro470Thr) rs149967939 0.00052
NM_030962.4(SBF2):c.1509A>G (p.Glu503=) rs143773975 0.00030
NM_030962.4(SBF2):c.513+18A>T rs201201683 0.00027
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=) rs191964053 0.00017
NM_030962.4(SBF2):c.1812C>T (p.Asp604=) rs765658939 0.00015
NM_030962.4(SBF2):c.4095C>T (p.Ile1365=) rs142904756 0.00011
NM_030962.4(SBF2):c.5469T>C (p.Arg1823=) rs373457270 0.00006
NM_030962.4(SBF2):c.1762C>T (p.Leu588Phe)
NM_030962.4(SBF2):c.3618T>G (p.Val1206=)
NM_030962.4(SBF2):c.3979-4G>A rs375742620
NM_030962.4(SBF2):c.4444-9G>T
NM_030962.4(SBF2):c.948A>G (p.Leu316=)
NM_030962.4(SBF2):c.960A>G (p.Gln320=)

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