ClinVar Miner

List of variants in gene DSP reported as likely pathogenic for Cardiomyopathy

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671 0.00005
NM_004415.4(DSP):c.6310del (p.Thr2104fs) rs730880092 0.00003
NM_004415.4(DSP):c.2436+2T>C rs774514264 0.00001
NM_004415.4(DSP):c.5940dup (p.Tyr1981fs) rs1561701721 0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter) rs1464253797 0.00001
NM_004415.4(DSP):c.1063C>T (p.Gln355Ter) rs1561686893
NM_004415.4(DSP):c.1138C>T (p.Gln380Ter)
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter) rs761380979
NM_004415.4(DSP):c.1381ATT[1] (p.Ile462del) rs193922668
NM_004415.4(DSP):c.1520C>T (p.Ser507Phe) rs1240326550
NM_004415.4(DSP):c.171T>A (p.Cys57Ter) rs1758487010
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) rs1581805658
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter) rs1561690319
NM_004415.4(DSP):c.2130+1G>A rs727505115
NM_004415.4(DSP):c.2131-3_2131del
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.2907del (p.Ser970fs) rs2113688929
NM_004415.4(DSP):c.2980dup (p.Gln994fs) rs1581813564
NM_004415.4(DSP):c.3451G>T (p.Glu1151Ter)
NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter) rs1759359916
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4332dup (p.Gln1445fs) rs1561698714
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.4687_4688del (p.Leu1563fs) rs2113694673
NM_004415.4(DSP):c.5320_5321del (p.Gln1774fs)
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.5773C>T (p.Gln1925Ter) rs2113698710
NM_004415.4(DSP):c.5792_5793insGAGTTAGATA (p.Glu1931_Arg1932insSerTer)
NM_004415.4(DSP):c.6370_6373del (p.Leu2124fs) rs1759529582
NM_004415.4(DSP):c.6451dup (p.Arg2151fs) rs1759533568
NM_004415.4(DSP):c.6463delinsCT (p.Asp2155fs) rs1561702549
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.6537_6538del (p.Lys2180fs)
NM_004415.4(DSP):c.6936_6957del (p.Glu2313fs) rs2113701305
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter) rs2113701867
NM_004415.4(DSP):c.7438C>T (p.Gln2480Ter)
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs) rs763560697
NM_004415.4(DSP):c.801_820dup (p.Asn274fs)
NM_004415.4(DSP):c.8029C>T (p.Gln2677Ter) rs2113703930
NM_004415.4(DSP):c.8075del (p.Gln2692fs)
NM_004415.4(DSP):c.8082_8085del (p.Ala2694_Phe2695insTer)

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