ClinVar Miner

List of variants in gene CAPN3 reported as uncertain significance by GeneDx

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Total variants: 14
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HGVS dbSNP
NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln) rs146403258
NM_000070.3(CAPN3):c.1126T>G (p.Trp376Gly) rs1064794448
NM_000070.3(CAPN3):c.1292T>C (p.Val431Ala) rs199625801
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000070.3(CAPN3):c.19G>C (p.Ala7Pro) rs776827432
NM_000070.3(CAPN3):c.2115+4T>G rs752436906
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842
NM_000070.3(CAPN3):c.2416_2417dup (p.Ile807fs) rs1131691320
NM_000070.3(CAPN3):c.308C>T (p.Pro103Leu) rs148538711
NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys) rs772580081
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser) rs371166254
NM_000070.3(CAPN3):c.721A>G (p.Ile241Val) rs141948992
NM_000070.3(CAPN3):c.813C>G (p.Asn271Lys) rs765292152
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu) rs752483058

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