ClinVar Miner

List of variants reported as likely pathogenic for polymorphic ventricular tachycardia by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (17):
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ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg) rs1573911397
NM_001035.3(RYR2):c.12006G>A (p.Met4002Ile) rs1695315646
NM_001035.3(RYR2):c.1244C>A (p.Thr415Lys) rs1288202574
NM_001035.3(RYR2):c.12455T>A (p.Ile4152Asn) rs1695358851
NM_001035.3(RYR2):c.12499G>A (p.Glu4167Lys) rs1695363148
NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del) rs1558405887
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln) rs1553328170
NM_001035.3(RYR2):c.14079_14081del (p.Leu4694del) rs1573997412
NM_001035.3(RYR2):c.14737C>T (p.His4913Tyr) rs2102947618
NM_001035.3(RYR2):c.14769G>T (p.Met4923Ile) rs1663792524
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr) rs1663793007
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys) rs1558698334
NM_001035.3(RYR2):c.6749A>T (p.Asn2250Ile) rs2148707460
NM_001035.3(RYR2):c.6899A>G (p.Asp2300Gly) rs1681104142
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756

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