ClinVar Miner

List of variants in gene CAPN3 reported as benign by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05293
NM_000070.3(CAPN3):c.1746-64C>T rs17764849 0.03691
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_000070.3(CAPN3):c.78G>A (p.Pro26=) rs62642519 0.01774
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543 0.01154
NM_000070.3(CAPN3):c.1116-5A>G rs28364467 0.01144
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr) rs61735534 0.00885
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_000070.3(CAPN3):c.939G>A (p.Pro313=) rs78369269 0.00698
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_000070.3(CAPN3):c.1537-33G>A rs143412460 0.00363

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