ClinVar Miner

List of variants in gene SLC32A1 studied for neurodevelopmental disorder

Included ClinVar conditions (780):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_080552.3(SLC32A1):c.179T>G (p.Met60Arg)
NM_080552.3(SLC32A1):c.787G>A (p.Val263Met) rs2145649990
NM_080552.3(SLC32A1):c.806T>A (p.Leu269Gln)
NM_080552.3(SLC32A1):c.889G>A (p.Val297Ile)
NM_080552.3(SLC32A1):c.965T>G (p.Phe322Cys) rs2145650130

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