ClinVar Miner

List of variants studied for arrhythmogenic right ventricular cardiomyopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (37):
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ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_024422.6(DSC2):c.631-13dup rs551337657 0.00026
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala) rs776046135 0.00009
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg) rs765793636 0.00005
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) rs786204291 0.00004
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_002230.4(JUP):c.1805G>A (p.Arg602His) rs909955430 0.00001
NM_002230.4(JUP):c.406G>A (p.Asp136Asn) rs782392706 0.00001
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.155dup (p.Ser53fs) rs958681660
NM_001005242.3(PKP2):c.1663C>A (p.Pro555Thr) rs771808028
NM_001005242.3(PKP2):c.2168-11dup rs746936605
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter) rs760576804
NM_001005242.3(PKP2):c.466C>G (p.Pro156Ala) rs794729102
NM_001005242.3(PKP2):c.502T>C (p.Tyr168His) rs1956954455
NM_001035.3(RYR2):c.10209dup (p.Ile3404fs) rs1688657241
NM_001035.3(RYR2):c.12365_12367del (p.Ala4122del) rs1695350400
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg) rs1402571360
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.1709-15T>A rs1663379209
NM_001035.3(RYR2):c.3023C>T (p.Ala1008Val) rs1232224119
NM_001035.3(RYR2):c.9129G>T (p.Arg3043Ser) rs1687847434
NM_001943.5(DSG2):c.2836A>G (p.Met946Val) rs770026700
NM_001943.5(DSG2):c.803_810dup (p.Val271fs) rs2073149649
NM_002230.4(JUP):c.1807G>A (p.Val603Met) rs200327969
NM_002230.4(JUP):c.73_88del (p.Gly25fs) rs1916687478
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp) rs1057518818
NM_024422.6(DSC2):c.607C>T (p.Arg203Cys) rs142331975

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