ClinVar Miner

List of variants reported as uncertain significance for craniosynostosis by Klinisk genetik och genomik Research, Gothenburg University

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001142784.3(IL11RA):c.343C>T (p.Arg115Cys) rs200580340 0.00046
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val) rs201967816 0.00017
NM_002448.3(MSX1):c.817G>A (p.Gly273Ser) rs184700656 0.00006
NM_015330.6(SPECC1L):c.1619G>A (p.Arg540His) rs140698674 0.00005
NM_019032.6(ADAMTSL4):c.1666C>T (p.Arg556Ter) rs748487774 0.00002
NM_000138.5(FBN1):c.794C>T (p.Thr265Ile) rs762310407 0.00001
NM_000264.5(PTCH1):c.1193C>T (p.Ala398Val) rs375098989 0.00001
NM_001024630.4(RUNX2):c.340G>A (p.Val114Ile) rs1798260254 0.00001
NM_004612.4(TGFBR1):c.222A>C (p.Glu74Asp) rs201910738 0.00001
NM_006494.4(ERF):c.1300G>A (p.Glu434Lys) rs749808726 0.00001
NM_019885.4(CYP26B1):c.1179G>T (p.Met393Ile) rs1341772264 0.00001
NM_019885.4(CYP26B1):c.74_77dup (p.Val28fs) rs771651519 0.00001
NM_000264.5(PTCH1):c.1347+6G>T rs372655486
NM_000875.5(IGF1R):c.580_581del (p.Lys194fs) rs1596214904
NM_004655.4(AXIN2):c.1972A>T (p.Ser658Cys) rs1567754376
NM_006494.4(ERF):c.383T>G (p.Val128Gly) rs781452659
NM_015330.6(SPECC1L):c.1915C>T (p.Arg639Ter) rs1601553546

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