ClinVar Miner

List of variants in gene combination LOC126862902, RYR1 reported as likely benign for malignant hyperthermia, susceptibility to, 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00085
NM_000540.3(RYR1):c.8616+7G>A rs200023171 0.00031
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr) rs767805554 0.00007
NM_000540.3(RYR1):c.8542-8C>T rs1047438928 0.00006
NM_000540.3(RYR1):c.8598C>T (p.Thr2866=) rs538250432 0.00006
NM_000540.3(RYR1):c.8340C>T (p.Asn2780=) rs1024020194 0.00001
NM_000540.3(RYR1):c.8388C>T (p.Thr2796=) rs768990462 0.00001
NM_000540.3(RYR1):c.8311-8A>G rs771565964
NM_000540.3(RYR1):c.8313C>A (p.Ile2771=) rs886038343
NM_000540.3(RYR1):c.8322C>T (p.Asn2774=)
NM_000540.3(RYR1):c.8401-8C>G
NM_000540.3(RYR1):c.8401-9C>T
NM_000540.3(RYR1):c.8439G>C (p.Leu2813=)
NM_000540.3(RYR1):c.8454C>T (p.Ala2818=)
NM_000540.3(RYR1):c.8490G>A (p.Glu2830=)
NM_000540.3(RYR1):c.8517G>A (p.Thr2839=) rs182019390
NM_000540.3(RYR1):c.8544C>T (p.Thr2848=)
NM_000540.3(RYR1):c.8601G>C (p.Leu2867=)

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