ClinVar Miner

List of variants in gene combination LOC126862902, RYR1 reported as uncertain significance for RYR1-related disorder

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00081
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr) rs767805554 0.00007
NM_000540.3(RYR1):c.8450T>C (p.Ile2817Thr) rs369194674 0.00005
NM_000540.3(RYR1):c.8516C>T (p.Thr2839Met) rs781458272 0.00005
NM_000540.3(RYR1):c.8377C>T (p.Pro2793Ser) rs369040621 0.00004
NM_000540.3(RYR1):c.8330A>T (p.Tyr2777Phe) rs769276412 0.00003
NM_000540.3(RYR1):c.8416C>T (p.Arg2806Cys) rs772769577 0.00003
NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp) rs193922830 0.00002
NM_000540.3(RYR1):c.8605C>T (p.Arg2869Trp) rs956373707 0.00002
NM_000540.3(RYR1):c.8347G>A (p.Glu2783Lys) rs761023180 0.00001
NM_000540.3(RYR1):c.8387C>T (p.Thr2796Ile) rs1445048000 0.00001
NM_000540.3(RYR1):c.8400+5C>G rs774950464 0.00001
NM_000540.3(RYR1):c.8409G>T (p.Glu2803Asp) rs755616009 0.00001
NM_000540.3(RYR1):c.8410A>T (p.Ile2804Phe) rs779475638 0.00001
NM_000540.3(RYR1):c.8417G>A (p.Arg2806His) rs778214809 0.00001
NM_000540.3(RYR1):c.8432A>C (p.Glu2811Ala) rs373238255 0.00001
NM_000540.3(RYR1):c.8441A>G (p.Lys2814Arg) rs759717284 0.00001
NM_000540.3(RYR1):c.8465C>T (p.Thr2822Met) rs751301822 0.00001
NM_000540.3(RYR1):c.8468T>C (p.Ile2823Thr) rs1466240377 0.00001
NM_000540.3(RYR1):c.8483A>T (p.Glu2828Val) rs1048909436 0.00001
NM_000540.3(RYR1):c.8497A>G (p.Lys2833Glu) rs777147998 0.00001
NM_000540.3(RYR1):c.8514A>C (p.Lys2838Asn) rs140171924 0.00001
NM_000540.3(RYR1):c.8536G>A (p.Ala2846Thr) rs1368371779 0.00001
NM_000540.3(RYR1):c.8541+8C>T rs1308144597 0.00001
NM_000540.3(RYR1):c.8546A>G (p.Tyr2849Cys) rs1970446266 0.00001
NM_000540.3(RYR1):c.8564A>G (p.Tyr2855Cys) rs1432899779 0.00001
NM_000540.3(RYR1):c.8581G>A (p.Asp2861Asn) rs138647599 0.00001
NM_000540.3(RYR1):c.8315A>G (p.Gln2772Arg) rs746484347
NM_000540.3(RYR1):c.8330A>G (p.Tyr2777Cys) rs769276412
NM_000540.3(RYR1):c.8340C>G (p.Asn2780Lys)
NM_000540.3(RYR1):c.8345A>G (p.Asp2782Gly) rs1555785401
NM_000540.3(RYR1):c.8347_8348delinsCT (p.Glu2783Leu) rs1600847230
NM_000540.3(RYR1):c.8366C>T (p.Pro2789Leu) rs2514358496
NM_000540.3(RYR1):c.8377C>A (p.Pro2793Thr) rs369040621
NM_000540.3(RYR1):c.8378C>T (p.Pro2793Leu) rs777584701
NM_000540.3(RYR1):c.8386A>T (p.Thr2796Ser)
NM_000540.3(RYR1):c.8410A>G (p.Ile2804Val) rs779475638
NM_000540.3(RYR1):c.8416C>G (p.Arg2806Gly) rs772769577
NM_000540.3(RYR1):c.8431G>A (p.Glu2811Lys) rs2145633451
NM_000540.3(RYR1):c.8457G>C (p.Trp2819Cys) rs1364291366
NM_000540.3(RYR1):c.8464A>T (p.Thr2822Ser) rs2514362032
NM_000540.3(RYR1):c.8471A>G (p.Glu2824Gly) rs1555785560
NM_000540.3(RYR1):c.8486G>A (p.Gly2829Asp)
NM_000540.3(RYR1):c.8488GAG[2] (p.Glu2832del) rs767722812
NM_000540.3(RYR1):c.8501C>A (p.Thr2834Lys) rs555470100
NM_000540.3(RYR1):c.8501C>T (p.Thr2834Met) rs555470100
NM_000540.3(RYR1):c.8509A>G (p.Lys2837Glu) rs1970424294
NM_000540.3(RYR1):c.8516C>A (p.Thr2839Lys) rs781458272
NM_000540.3(RYR1):c.8516C>G (p.Thr2839Arg) rs781458272
NM_000540.3(RYR1):c.8518C>G (p.Arg2840Gly) rs193922830
NM_000540.3(RYR1):c.8539C>G (p.Gln2847Glu) rs1357730526
NM_000540.3(RYR1):c.8542-3C>G rs1227863277
NM_000540.3(RYR1):c.8542A>G (p.Thr2848Ala) rs1555785712
NM_000540.3(RYR1):c.8555G>A (p.Arg2852Gln) rs1465684137
NM_000540.3(RYR1):c.8561G>C (p.Gly2854Ala) rs2145635756
NM_000540.3(RYR1):c.8576C>G (p.Pro2859Arg) rs2145635843
NM_000540.3(RYR1):c.8576C>T (p.Pro2859Leu) rs2145635843
NM_000540.3(RYR1):c.8594T>C (p.Val2865Ala) rs2514366033
NM_000540.3(RYR1):c.8616+3G>A

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