ClinVar Miner

List of variants studied for polymorphic ventricular tachycardia by Mendelics

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690 0.00016
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985 0.00003
NM_001035.3(RYR2):c.11939T>A (p.Val3980Asp) rs1573923041
NM_001035.3(RYR2):c.14223_14224insTTTTT (p.His4742fs) rs1574034151
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala) rs778783933
NM_001232.4(CASQ2):c.381C>T (p.Gly127=) rs775663612
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser) rs2873479

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