ClinVar Miner

List of variants studied for arrhythmogenic right ventricular cardiomyopathy by Phosphorus, Inc.

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.68624
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_013266.4(CTNNA3):c.1900G>A (p.Glu634Lys) rs77165728 0.00058
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872 0.00049
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr) rs201856473 0.00016
NM_024422.6(DSC2):c.1521-7C>T rs374810953 0.00015
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00004
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn) rs753406968 0.00001
NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala) rs1553325274

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