ClinVar Miner

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

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817 0.00034
NM_000070.3(CAPN3):c.725G>A (p.Arg242Lys) rs146253209 0.00024
NM_000070.3(CAPN3):c.721A>G (p.Ile241Val) rs141948992 0.00015
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser) rs187054121 0.00011
NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln) rs146403258 0.00008
NM_000070.3(CAPN3):c.41C>T (p.Ala14Val) rs771263688 0.00007
NM_000070.3(CAPN3):c.2137A>G (p.Asn713Asp) rs748363488 0.00006
NM_000070.3(CAPN3):c.308C>T (p.Pro103Leu) rs148538711 0.00006
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser) rs371166254 0.00006
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.1292T>C (p.Val431Ala) rs199625801 0.00004
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00004
NM_000070.3(CAPN3):c.2236G>A (p.Glu746Lys) rs752155690 0.00003
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu) rs752483058 0.00003
NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys) rs747819910 0.00001
NM_000070.3(CAPN3):c.2260G>A (p.Ala754Thr) rs137927542 0.00001
NM_000070.3(CAPN3):c.309G>A (p.Pro103=) rs376146681 0.00001
NM_000070.3(CAPN3):c.379+3A>G rs1164215001 0.00001
NM_000070.3(CAPN3):c.866G>A (p.Arg289Gln) rs775084606 0.00001
NM_000070.3(CAPN3):c.1012G>C (p.Val338Leu) rs771608215
NM_000070.3(CAPN3):c.1126T>G (p.Trp376Gly) rs1064794448
NM_000070.3(CAPN3):c.1486G>A (p.Gly496Arg) rs761637940
NM_000070.3(CAPN3):c.1495C>G (p.Leu499Val) rs1595837194
NM_000070.3(CAPN3):c.1711C>G (p.Leu571Val)
NM_000070.3(CAPN3):c.172G>A (p.Glu58Lys) rs750022600
NM_000070.3(CAPN3):c.19G>C (p.Ala7Pro) rs776827432
NM_000070.3(CAPN3):c.2080C>G (p.Leu694Val) rs2054156832
NM_000070.3(CAPN3):c.2115+4T>G rs752436906
NM_000070.3(CAPN3):c.2150T>C (p.Phe717Ser) rs999378228
NM_000070.3(CAPN3):c.2290G>A (p.Asp764Asn)
NM_000070.3(CAPN3):c.2416_2417dup (p.Ile807fs) rs1131691320
NM_000070.3(CAPN3):c.2462C>T (p.Ala821Val) rs398123148
NM_000070.3(CAPN3):c.368_370del (p.Gln123_Gly124delinsArg) rs2141155690
NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys) rs772580081
NM_000070.3(CAPN3):c.49C>T (p.Pro17Ser)
NM_000070.3(CAPN3):c.526G>A (p.Val176Met) rs774114705
NM_000070.3(CAPN3):c.584A>G (p.Asn195Ser) rs148855999
NM_000070.3(CAPN3):c.590G>A (p.Arg197His) rs768426565
NM_000070.3(CAPN3):c.839G>T (p.Gly280Val)
NM_000070.3(CAPN3):c.856T>G (p.Leu286Val)

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