ClinVar Miner

List of variants in gene CAPN3, LOC126862115 studied for autosomal recessive disease

Included ClinVar conditions (1204):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 78
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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
NM_000070.3(CAPN3):c.492C>T (p.His164=) rs746311570 0.00004
NM_000070.3(CAPN3):c.440G>A (p.Arg147Gln) rs139671324 0.00003
NM_000070.3(CAPN3):c.478G>A (p.Ala160Thr) rs749697583 0.00003
NM_000070.3(CAPN3):c.397G>T (p.Ala133Ser) rs946415346 0.00001
NM_000070.3(CAPN3):c.398C>T (p.Ala133Val) rs774685118 0.00001
NM_000070.3(CAPN3):c.402C>T (p.Ala134=) rs759713838 0.00001
NM_000070.3(CAPN3):c.417C>T (p.Thr139=) rs2053400365 0.00001
NM_000070.3(CAPN3):c.425A>G (p.Gln142Arg) rs1173872855 0.00001
NM_000070.3(CAPN3):c.433C>G (p.Leu145Val) rs886044404 0.00001
NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter) rs878854364 0.00001
NM_000070.3(CAPN3):c.450C>T (p.Pro150=) rs1255302975 0.00001
NM_000070.3(CAPN3):c.452A>C (p.His151Pro) rs766369281 0.00001
NM_000070.3(CAPN3):c.452A>G (p.His151Arg) rs766369281 0.00001
NM_000070.3(CAPN3):c.453T>C (p.His151=) rs1193719537 0.00001
NM_000070.3(CAPN3):c.456T>C (p.Asp152=) rs751448923 0.00001
NM_000070.3(CAPN3):c.461G>C (p.Ser154Thr) rs1177741110 0.00001
NM_000070.3(CAPN3):c.469G>A (p.Glu157Lys) rs200944841 0.00001
NM_000070.3(CAPN3):c.477C>T (p.Tyr159=) rs1401194449 0.00001
NM_000070.3(CAPN3):c.480A>T (p.Ala160=) rs779579276 0.00001
NC_000015.10:g.(?_42359796)_(42399662_?)del
NM_000070.2(CAPN3):c.[223dupT];[439C>T]
NM_000070.3(CAPN3):c.380-15T>C
NM_000070.3(CAPN3):c.380-1G>A
NM_000070.3(CAPN3):c.380-2A>G
NM_000070.3(CAPN3):c.380-8G>A rs1415586798
NM_000070.3(CAPN3):c.380-8_395del rs1555420302
NM_000070.3(CAPN3):c.380G>A (p.Gly127Glu)
NM_000070.3(CAPN3):c.381G>T (p.Gly127=)
NM_000070.3(CAPN3):c.382del rs2141160425
NM_000070.3(CAPN3):c.387C>G (p.Cys129Trp) rs1555420308
NM_000070.3(CAPN3):c.389G>A (p.Trp130Ter) rs2141160443
NM_000070.3(CAPN3):c.390del (p.Trp130fs)
NM_000070.3(CAPN3):c.395T>C (p.Leu132Pro) rs1555420309
NM_000070.3(CAPN3):c.396C>G (p.Leu132=)
NM_000070.3(CAPN3):c.396C>T (p.Leu132=)
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr) rs946415346
NM_000070.3(CAPN3):c.402del (p.Ile135fs) rs746935735
NM_000070.3(CAPN3):c.405T>A (p.Ile135=) rs568666121
NM_000070.3(CAPN3):c.408C>G (p.Ala136=) rs775861630
NM_000070.3(CAPN3):c.408C>T (p.Ala136=) rs775861630
NM_000070.3(CAPN3):c.412C>G (p.Leu138Val) rs1042151947
NM_000070.3(CAPN3):c.412dup (p.Leu138fs) rs2141160513
NM_000070.3(CAPN3):c.413T>C (p.Leu138Pro)
NM_000070.3(CAPN3):c.423C>T (p.Asn141=)
NM_000070.3(CAPN3):c.427del (p.His143fs)
NM_000070.3(CAPN3):c.433C>T (p.Leu145Phe)
NM_000070.3(CAPN3):c.433del (p.Leu145fs) rs2141160577
NM_000070.3(CAPN3):c.438C>T (p.Phe146=)
NM_000070.3(CAPN3):c.439C>A (p.Arg147=) rs878854364
NM_000070.3(CAPN3):c.444C>A (p.Val148=)
NM_000070.3(CAPN3):c.444del (p.Ile149fs) rs2053401167
NM_000070.3(CAPN3):c.451C>G (p.His151Asp) rs886051148
NM_000070.3(CAPN3):c.459A>C (p.Gln153His) rs2141160666
NM_000070.3(CAPN3):c.459A>G (p.Gln153=)
NM_000070.3(CAPN3):c.466A>G (p.Ile156Val) rs780611743
NM_000070.3(CAPN3):c.468C>A (p.Ile156=) rs143942248
NM_000070.3(CAPN3):c.468C>G (p.Ile156Met)
NM_000070.3(CAPN3):c.468C>T (p.Ile156=) rs143942248
NM_000070.3(CAPN3):c.478G>C (p.Ala160Pro) rs749697583
NM_000070.3(CAPN3):c.478G>T (p.Ala160Ser) rs749697583
NM_000070.3(CAPN3):c.480A>C (p.Ala160=)
NM_000070.3(CAPN3):c.480A>G (p.Ala160=)
NM_000070.3(CAPN3):c.481G>A (p.Gly161Arg) rs1566974488
NM_000070.3(CAPN3):c.483G>A (p.Gly161=)
NM_000070.3(CAPN3):c.483del (p.Ile162fs) rs863224963
NM_000070.3(CAPN3):c.484A>T (p.Ile162Phe) rs1595819812
NM_000070.3(CAPN3):c.496del (p.Gln166fs)
NM_000070.3(CAPN3):c.498+11G>A
NM_000070.3(CAPN3):c.498+11G>T
NM_000070.3(CAPN3):c.498+14A>G
NM_000070.3(CAPN3):c.498+16T>A
NM_000070.3(CAPN3):c.498+16T>C
NM_000070.3(CAPN3):c.498+1G>A rs2141160881
NM_000070.3(CAPN3):c.498+20G>A
NM_000070.3(CAPN3):c.498+7T>A

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