ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular dysplasia 8 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020 0.00011
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) rs139673146 0.00007
NM_004415.4(DSP):c.6310del (p.Thr2104fs) rs730880092 0.00003
NM_004415.4(DSP):c.2609T>C (p.Ile870Thr) rs534413559 0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser) rs563272509 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_004415.4(DSP):c.1755dup (p.His586fs)
NM_004415.4(DSP):c.2620A>T (p.Ile874Phe) rs1759212430
NM_004415.4(DSP):c.3110T>A (p.Leu1037Ter)
NM_004415.4(DSP):c.3407del (p.Lys1136fs)
NM_004415.4(DSP):c.3928A>T (p.Lys1310Ter)
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.4369A>T (p.Met1457Leu)
NM_004415.4(DSP):c.5327A>G (p.Glu1776Gly) rs1363204936
NM_004415.4(DSP):c.5504A>C (p.Glu1835Ala)
NM_004415.4(DSP):c.6280A>G (p.Thr2094Ala)
NM_004415.4(DSP):c.7113_7119del (p.Ile2372fs)
NM_004415.4(DSP):c.7394G>C (p.Arg2465Thr)
NM_004415.4(DSP):c.8071G>C (p.Ala2691Pro) rs1006955897

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