ClinVar Miner

List of variants in gene MCM5 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006739.4(MCM5):c.423+7C>T rs713618 0.56028
NM_006739.4(MCM5):c.850_851del (p.Arg284fs) rs760621295 0.00001
NM_006739.4(MCM5):c.1397C>T (p.Thr466Ile) rs1131692169
NM_006739.4(MCM5):c.830C>A (p.Thr277Asn) rs956123297

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