ClinVar Miner

List of variants in gene ODC1 studied for neurodevelopmental disorder

Included ClinVar conditions (780):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_002539.3(ODC1):c.103G>A (p.Asp35Asn) rs1425530118 0.00001
NM_002539.3(ODC1):c.1187C>T (p.Thr396Met) rs770687907 0.00001
NM_002539.3(ODC1):c.1270G>A (p.Asp424Asn) rs577671630 0.00001
NC_000002.12:g.10440850_10440871del
NM_002539.3(ODC1):c.1240_1241dup (p.Trp414fs) rs1671814787
NM_002539.3(ODC1):c.1241+1G>T rs1671814748
NM_002539.3(ODC1):c.1255C>T (p.Gln419Ter) rs1671798353
NM_002539.3(ODC1):c.1313_1316del (p.Pro438fs) rs1671795191
NM_002539.3(ODC1):c.1342A>T (p.Lys448Ter) rs1671794742
NM_002539.3(ODC1):c.912T>G (p.Asp304Glu) rs139046118

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