ClinVar Miner

Variants in gene SBF1 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr) rs202049257 0.00229
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His) rs147869659 0.00084
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568 0.00024
NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu) rs201200122 0.00018
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_002972.4(SBF1):c.5382_5383del (p.Tyr1795fs) rs1603430221
NM_002972.4(SBF1):c.5394_5395del (p.Ala1799fs) rs1234122324
NM_002972.4(SBF1):c.897+1G>A rs374026247

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