ClinVar Miner

List of variants in gene combination CAPN3, LOC126862115 reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
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_000070.3(CAPN3):c.498+35G>T rs28364399 0.04397
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324 0.00613

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