ClinVar Miner

List of variants in gene DSP reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute

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Gene type:
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Total variants: 36
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HGVS dbSNP
NM_004415.4(DSP):c.1357C>T (p.Pro453Ser) rs1554106845
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) rs1581805658
NM_004415.4(DSP):c.1dup (p.Met1fs) rs17133512
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304
NM_004415.4(DSP):c.249G>A (p.Met83Ile) rs1426930663
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411
NM_004415.4(DSP):c.2630+1del rs1554107651
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.4(DSP):c.2894T>C (p.Leu965Pro) rs1581813405
NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter) rs1581815654
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys) rs777407386
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe) rs752121953
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299
NM_004415.4(DSP):c.4541T>C (p.Leu1514Pro) rs1173680775
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.4(DSP):c.5555G>A (p.Arg1852His) rs193922669
NM_004415.4(DSP):c.557A>T (p.His186Leu) rs1033990351
NM_004415.4(DSP):c.5744G>A (p.Arg1915His) rs146617683
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.4(DSP):c.6927G>A (p.Arg2309=) rs747248981
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp) rs762943687
NM_004415.4(DSP):c.7122C>T (p.Thr2374=) rs2076300
NM_004415.4(DSP):c.7503_7508del (p.Cys2501_Glu2502del) rs1473818298
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys) rs371020228
NM_004415.4(DSP):c.8496_8507ATCTCGCTCCGG[1] (p.2827_2830SGSR[4]) rs397516971
NM_004415.4(DSP):c.877G>A (p.Glu293Lys) rs876657799
NM_004415.4(DSP):c.939+1G>A rs727504443

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