ClinVar Miner

List of variants studied for Catecholaminergic polymorphic ventricular tachycardia 1 by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001035.3(RYR2):c.1511G>A (p.Arg504His) rs201600087 0.00006
NM_001035.3(RYR2):c.5096G>A (p.Arg1699His) rs779464111 0.00002
NM_001035.3(RYR2):c.10241G>A (p.Arg3414Lys) rs1131692324
NM_001035.3(RYR2):c.11144A>G (p.Glu3715Gly) rs1573761441
NM_001035.3(RYR2):c.11234G>T (p.Ser3745Ile) rs1573821691
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.12521T>C (p.Phe4174Ser)
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) rs794728787
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.14553C>A (p.Phe4851Leu) rs1291829047
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.14864G>A (p.Gly4955Glu) rs1553343100
NM_001035.3(RYR2):c.1918A>G (p.Arg640Gly) rs886041109
NM_001035.3(RYR2):c.2468A>T (p.Tyr823Phe) rs759178071
NM_001035.3(RYR2):c.3257G>A (p.Arg1086Gln) rs749566870
NM_001035.3(RYR2):c.326G>A (p.Gly109Asp) rs1572014527
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys) rs1558698334
NM_001035.3(RYR2):c.5585A>G (p.Asp1862Gly) rs1559117209
NM_001035.3(RYR2):c.6394G>C (p.Val2132Leu) rs1553531684
NM_001035.3(RYR2):c.6520G>T (p.Val2174Phe) rs1131692321
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
NM_001035.3(RYR2):c.7469T>C (p.Val2490Ala) rs886041112
NM_001035.3(RYR2):c.94C>A (p.Gln32Lys) rs1553373926

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