ClinVar Miner

List of variants in gene CSRP3 reported as pathogenic for cardiomyopathy

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) rs137852765 0.00005
NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg) rs137852764 0.00001
NM_003476.5(CSRP3):c.337A>T (p.Lys113Ter) rs863224716 0.00001
NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter) rs902082118 0.00001
NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter) rs1216811263 0.00001
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504 0.00001
NM_003476.5(CSRP3):c.111C>A (p.Cys37Ter) rs1850628800
NM_003476.5(CSRP3):c.160_164delinsAGGGG (p.Ser54_Glu55delinsArgGly) rs281865416
NM_003476.5(CSRP3):c.172T>G (p.Cys58Gly) rs104894204
NM_003476.5(CSRP3):c.186T>G (p.Tyr62Ter)
NM_003476.5(CSRP3):c.233G>T (p.Gly78Val) rs963128995
NM_003476.5(CSRP3):c.279del (p.Gln93fs)
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs) rs960577385
NM_003476.5(CSRP3):c.373A>T (p.Lys125Ter) rs1554967541
NM_003476.5(CSRP3):c.377C>A (p.Ser126Ter)
NM_003476.5(CSRP3):c.377C>G (p.Ser126Ter) rs1850523074
NM_003476.5(CSRP3):c.420G>C (p.Trp140Cys) rs1565050320
NM_003476.5(CSRP3):c.50_51insGCAGATTTCTT (p.Tyr18fs) rs1336937886

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