ClinVar Miner

List of variants in gene combination LOC101928335, MID2 reported as pathogenic for X-linked disease

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_012216.4(MID2):c.1040G>A (p.Arg347Gln) rs587777605 0.00002
NM_012216.4(MID2):c.1447del (p.Ser483fs) rs1602511836

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