ClinVar Miner

List of variants reported as uncertain significance for craniosynostosis by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_025132.4(WDR19):c.3874T>C (p.Cys1292Arg) rs766752510 0.00003
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_025132.4(WDR19):c.291-12_291-11del rs1324399102 0.00001
NM_000141.5(FGFR2):c.2152G>C (p.Glu718Gln) rs1589713974
NM_000141.5(FGFR2):c.2177C>G (p.Ala726Gly) rs1458081920
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) rs794727410
NM_002449.5(MSX2):c.698dup (p.Ser234fs) rs1760878980
NM_002449.5(MSX2):c.793C>T (p.His265Tyr) rs1760881974

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