ClinVar Miner

List of variants in gene CHM reported by GeneReviews

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_000390.4(CHM):c.1609+2dup rs386833676 0.00001
NM_000390.4(CHM):c.116+1G>T rs786204761
NM_000390.4(CHM):c.1218C>A (p.Cys406Ter) rs1556277815
NM_000390.4(CHM):c.1584_1587del (p.Val529fs) rs587776746
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266

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