ClinVar Miner

List of variants reported as likely pathogenic for Arrhythmogenic right ventricular dysplasia 8

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.2436+2T>C rs774514264 0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_004415.4(DSP):c.1574+1G>A rs1758971797
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.3368_3372del (p.Arg1123fs)
NM_004415.4(DSP):c.3492_3498del (p.Lys1165fs)
NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.4336C>T (p.Gln1446Ter)
NM_004415.4(DSP):c.4404_4410del (p.Leu1469fs)
NM_004415.4(DSP):c.4476del (p.Glu1493fs)
NM_004415.4(DSP):c.4625_4626del (p.Asp1541_Tyr1542insTer)
NM_004415.4(DSP):c.4678C>T (p.Gln1560Ter)
NM_004415.4(DSP):c.5126_5127del (p.Leu1709fs)
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5840_5841dup (p.Gly1948fs)
NM_004415.4(DSP):c.6273del (p.Ala2092fs) rs794728146
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) rs777573018
NM_004415.4(DSP):c.7113_7119del (p.Ile2372fs)
NM_004415.4(DSP):c.7293_7296del (p.Glu2431fs)
NM_004415.4(DSP):c.7745_7746del (p.Val2581_Phe2582insTer)
NM_004415.4(DSP):c.7762G>T (p.Glu2588Ter)
NM_004415.4(DSP):c.7829C>G (p.Ser2610Ter) rs1163244913
NM_004415.4(DSP):c.893G>A (p.Trp298Ter)

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