ClinVar Miner

List of variants in gene PRDM13 reported as pathogenic for central nervous system malformation

Included ClinVar conditions (164):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_021620.4(PRDM13):c.800del (p.Gly267fs) rs2114499988
NM_021620.4(PRDM13):c.839del (p.Ala280fs) rs2114500026
NM_021620.4(PRDM13):c.844del (p.Val282fs) rs2114500035

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