ClinVar Miner

List of variants reported as uncertain significance for cardiac rhythm disease by Baylor Genetics

Included ClinVar conditions (118):
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ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001010874.5(TECRL):c.172A>G (p.Thr58Ala) rs189087821 0.00021
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys) rs202040519 0.00020
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr) rs375482798 0.00010
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met) rs370331492 0.00006
NM_000335.5(SCN5A):c.6004G>A (p.Asp2002Asn) rs376697724 0.00004
NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly) rs374306538 0.00003
NM_001035.3(RYR2):c.8262G>C (p.Gln2754His) rs773748242 0.00003
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_004588.5(SCN2B):c.44C>T (p.Thr15Met) rs201373014 0.00002
NM_006073.4(TRDN):c.1671A>G (p.Pro557=) rs935484433 0.00002
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124 0.00001
NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn) rs758082383 0.00001
NM_020297.4(ABCC9):c.3283C>T (p.Arg1095Cys) rs752450127 0.00001
NM_153485.3(NUP155):c.3226C>T (p.Arg1076Cys) rs376467373 0.00001
NM_001035.3(RYR2):c.14132G>A (p.Gly4711Glu)
NM_001035.3(RYR2):c.14751T>G (p.Asn4917Lys)
NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser) rs2148724464
NM_001035.3(RYR2):c.6958G>A (p.Val2320Met) rs1057522884
NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val) rs761019645
NM_001037.5(SCN1B):c.448+236C>G rs779470587
NM_006073.4(TRDN):c.1187-2A>G rs578024729
NM_006172.4(NPPA):c.118T>C (p.Phe40Leu) rs1645078375
NM_020297.4(ABCC9):c.2928_2929dup (p.Met977fs) rs1565731854

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