ClinVar Miner

List of variants in gene combination LOC126862902, RYR1 reported as uncertain significance for Malignant hyperthermia, susceptibility to, 1

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676 0.00016
NM_000540.3(RYR1):c.8442G>A (p.Lys2814=) rs771306571 0.00014
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr) rs767805554 0.00007
NM_000540.3(RYR1):c.8377C>T (p.Pro2793Ser) rs369040621 0.00004
NM_000540.3(RYR1):c.8416C>T (p.Arg2806Cys) rs772769577 0.00003
NM_000540.3(RYR1):c.8466G>A (p.Thr2822=) rs761622550 0.00002
NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp) rs193922830 0.00002
NM_000540.3(RYR1):c.8311-4C>T rs575528695 0.00001
NM_000540.3(RYR1):c.8347G>A (p.Glu2783Lys) rs761023180 0.00001
NM_000540.3(RYR1):c.8417G>A (p.Arg2806His) rs778214809 0.00001
NM_000540.3(RYR1):c.8441A>G (p.Lys2814Arg) rs759717284 0.00001
NM_000540.3(RYR1):c.8468T>C (p.Ile2823Thr) rs1466240377 0.00001
NM_000540.3(RYR1):c.8514A>C (p.Lys2838Asn) rs140171924 0.00001
NM_000540.3(RYR1):c.8519G>A (p.Arg2840Gln) rs923436076 0.00001
NM_000540.3(RYR1):c.8536G>A (p.Ala2846Thr) rs1368371779 0.00001
NM_000540.3(RYR1):c.8546A>G (p.Tyr2849Cys) rs1970446266 0.00001
NM_000540.3(RYR1):c.8550T>C (p.Asp2850=) rs767925886 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.8321A>G (p.Asn2774Ser)
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000540.3(RYR1):c.8347G>C (p.Glu2783Gln) rs761023180
NM_000540.3(RYR1):c.8348A>T (p.Glu2783Val) rs766549814
NM_000540.3(RYR1):c.8366C>T (p.Pro2789Leu) rs2514358496
NM_000540.3(RYR1):c.8369T>A (p.Met2790Lys) rs2145631700
NM_000540.3(RYR1):c.8377C>A (p.Pro2793Thr) rs369040621
NM_000540.3(RYR1):c.8377C>G (p.Pro2793Ala)
NM_000540.3(RYR1):c.8378C>T (p.Pro2793Leu) rs777584701
NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter) rs146514343
NM_000540.3(RYR1):c.8394A>T (p.Ser2798=) rs2514358771
NM_000540.3(RYR1):c.8399A>G (p.Lys2800Arg)
NM_000540.3(RYR1):c.8401-9C>A rs756838296
NM_000540.3(RYR1):c.8403C>G (p.Asp2801Glu)
NM_000540.3(RYR1):c.8416C>G (p.Arg2806Gly) rs772769577
NM_000540.3(RYR1):c.8446A>G (p.Met2816Val) rs775492883
NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter) rs1057518773
NM_000540.3(RYR1):c.8480G>A (p.Arg2827Lys) rs2514362171
NM_000540.3(RYR1):c.8482G>A (p.Glu2828Lys)
NM_000540.3(RYR1):c.8507dup (p.Lys2837fs) rs2514362440
NM_000540.3(RYR1):c.8512A>G (p.Lys2838Glu)
NM_000540.3(RYR1):c.8518C>G (p.Arg2840Gly) rs193922830
NM_000540.3(RYR1):c.8521A>C (p.Lys2841Gln) rs1426300780
NM_000540.3(RYR1):c.8521_8526del (p.Lys2841_Ile2842del)
NM_000540.3(RYR1):c.8522A>C (p.Lys2841Thr) rs2514362714
NM_000540.3(RYR1):c.8541+3G>A rs774306739
NM_000540.3(RYR1):c.8541+5A>C
NM_000540.3(RYR1):c.8556A>T (p.Arg2852=) rs2514365738
NM_000540.3(RYR1):c.8561G>T (p.Gly2854Val)
NM_000540.3(RYR1):c.8567A>T (p.Asn2856Ile) rs549476638
NM_000540.3(RYR1):c.8584C>G (p.Leu2862Val) rs2514365977
NM_000540.3(RYR1):c.8594T>C (p.Val2865Ala) rs2514366033
NM_000540.3(RYR1):c.8616+4A>G rs2514366257

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