ClinVar Miner

List of variants reported as pathogenic for developmental defect during embryogenesis by Istanbul Faculty of Medicine, Istanbul University

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709 0.00001
NM_005055.5(RAPSN):c.493G>A (p.Val165Met) rs761584017 0.00001
NM_020745.4(AARS2):c.277C>T (p.Arg93Ter) rs760920084 0.00001
NM_000135.4(FANCA):c.1343A>G (p.Tyr448Cys) rs769203048
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.2679G>A (p.Trp893Ter) rs2143288874
NM_000135.4(FANCA):c.495del (p.Phe166fs) rs2143677288
NM_000214.3(JAG1):c.2026del (p.Cys676fs)
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.2458+2_2458+4del
NM_000214.3(JAG1):c.753C>A (p.Cys251Ter)
NM_001083614.2(EARS2):c.1283del (p.Pro428fs) rs1965287605
NM_001164508.2(NEB):c.21936_21940del (p.Ile7312fs)
NM_005159.5(ACTC1):c.1121G>A (p.Arg374His)
NM_014780.5(CUL7):c.2064-1G>A rs2150328634
NM_020745.4(AARS2):c.845C>G (p.Ser282Cys) rs2153356880
NM_022725.4(FANCF):c.283_284del (p.Leu95fs) rs2133798188
NM_152416.4(NDUFAF6):c.485del (p.Asn162fs) rs762093523

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