ClinVar Miner

List of variants studied for catecholaminergic polymorphic ventricular tachycardia 1 by Blueprint Genetics

Included ClinVar conditions (7):
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ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys) rs180843436 0.00005
NM_017636.4(TRPM4):c.3512G>A (p.Arg1171His) rs762615860 0.00003
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys) rs730880191 0.00001
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396 0.00001
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg) rs730880194 0.00001
NM_001105206.3(LAMA4):c.2576C>T (p.Thr859Met) rs730880121 0.00001
NM_004415.4(DSP):c.2597G>A (p.Arg866His) rs764965132 0.00001
NM_000238.4(KCNH2):c.473-7C>G rs146570628
NM_000256.3(MYBPC3):c.3118T>G (p.Ser1040Ala) rs730880139
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala) rs727505267
NM_000335.5(SCN5A):c.1840C>T (p.Pro614Ser) rs730880204
NM_001035.3(RYR2):c.11570A>G (p.Tyr3857Cys) rs587782975
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) rs730880196
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile) rs730880201
NM_001035.3(RYR2):c.1604A>G (p.Glu535Gly) rs869025509
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu) rs730880187
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) rs794728708
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001148.6(ANK2):c.11611G>A (p.Gly3871Arg) rs786205729
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_004409.5(DMPK):c.582-6G>C rs766818029
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) rs267607276
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) rs267607277
NM_174934.4(SCN4B):c.592_593+1del rs587782976

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