ClinVar Miner

List of variants reported as likely benign for Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 by Invitae

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Total variants: 40
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HGVS dbSNP
NM_002230.4(JUP):c.1054+7A>T rs371988639
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380
NM_002230.4(JUP):c.1281G>A (p.Thr427=) rs373544304
NM_002230.4(JUP):c.1296C>T (p.Asn432=) rs544224850
NM_002230.4(JUP):c.1380C>T (p.Arg460=) rs782212737
NM_002230.4(JUP):c.1455C>T (p.Ile485=) rs368692517
NM_002230.4(JUP):c.147C>T (p.Cys49=) rs200001999
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser) rs376051686
NM_002230.4(JUP):c.1566G>A (p.Ala522=) rs547437428
NM_002230.4(JUP):c.159C>T (p.Tyr53=) rs370760069
NM_002230.4(JUP):c.1710C>T (p.Leu570=) rs375801194
NM_002230.4(JUP):c.1806C>T (p.Arg602=) rs781934535
NM_002230.4(JUP):c.1857C>T (p.Asp619=) rs782623854
NM_002230.4(JUP):c.192G>A (p.Gly64=) rs141237794
NM_002230.4(JUP):c.1932C>T (p.Tyr644=) rs201704572
NM_002230.4(JUP):c.1945C>T (p.Leu649=) rs149148171
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662
NM_002230.4(JUP):c.2046T>A (p.Ala682=) rs782632671
NM_002230.4(JUP):c.2059A>G (p.Ile687Val) rs138366708
NM_002230.4(JUP):c.2086+7G>C rs727504940
NM_002230.4(JUP):c.209-4C>G rs1555605999
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561
NM_002230.4(JUP):c.456C>T (p.Asn152=) rs781907298
NM_002230.4(JUP):c.459C>T (p.Asp153=) rs376289528
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262
NM_002230.4(JUP):c.561C>T (p.Ala187=) rs139552714
NM_002230.4(JUP):c.654G>A (p.Gly218=) rs112105828
NM_002230.4(JUP):c.66C>T (p.Tyr22=) rs782575179
NM_002230.4(JUP):c.694G>A (p.Val232Ile) rs137989964
NM_002230.4(JUP):c.708-4C>G rs201313464
NM_002230.4(JUP):c.708-6C>T rs782704213
NM_002230.4(JUP):c.801C>T (p.Ala267=) rs138397457
NM_002230.4(JUP):c.804C>T (p.Asp268=) rs782667629
NM_002230.4(JUP):c.84G>A (p.Ser28=) rs144137028
NM_002230.4(JUP):c.87C>T (p.Gly29=) rs199530395
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002230.4(JUP):c.936C>G (p.Pro312=) rs375094290
NM_002230.4(JUP):c.945C>T (p.Leu315=) rs146804895
NM_002230.4(JUP):c.972T>C (p.Tyr324=) rs781889333
NM_002230.4(JUP):c.99C>T (p.Cys33=) rs139172952

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