List of variants reported as pathogenic for central core myopathy

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 115

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	rs200563280	0.00013
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	rs118192172	0.00011
NM_000540.3(RYR1):c.10348-6C>G	rs193922837	0.00010
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met)	rs144071404	0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	rs121918593	0.00006
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	rs118192173	0.00005
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)	rs118192140	0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	rs118192177	0.00004
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)	rs368874586	0.00003
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr)	rs118192120	0.00003
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)	rs752199191	0.00003
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)	rs763112609	0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	rs146876145	0.00002
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	rs193922803	0.00002
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)	rs118192130	0.00001
NM_000540.3(RYR1):c.14130-2A>G	rs1457662393	0.00001
NM_000540.3(RYR1):c.14170A>C (p.Lys4724Gln)	rs118192141	0.00001
NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp)	rs193922867	0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)	rs118192158	0.00001
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)	rs193922768	0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn)	rs118192160	0.00001
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)	rs1305971341	0.00001
NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter)	rs587784376	0.00001
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)	rs118192175	0.00001
NM_000540.3(RYR1):c.6664-2A>G	rs1346257891	0.00001
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)	rs112563513	0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	rs118192122	0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)	rs1365856881	0.00001
NM_000540.3(RYR1):c.8310+1G>T	rs1970380121	0.00001
NM_000540.3(RYR1):c.838C>T (p.Arg280Ter)	rs1278804520	0.00001
NM_000540.2(RYR1):c.[14344G>A;14928C>G]
NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg)	rs118192126
NM_000540.3(RYR1):c.10347+1G>A	rs111436401
NM_000540.3(RYR1):c.10453C>T (p.Gln3485Ter)	rs199895006
NM_000540.3(RYR1):c.10817T>C (p.Leu3606Pro)	rs118192127
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)	rs118192117
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs)	rs1419938249
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met)	rs118192116
NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del)	rs118192165
NM_000540.3(RYR1):c.1280C>T (p.Ser427Leu)	rs118192118
NM_000540.3(RYR1):c.12986C>A (p.Ala4329Asp)	rs118192129
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs)	rs193922856
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)	rs193922748
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro)	rs118192131
NM_000540.3(RYR1):c.13891T>A (p.Tyr4631Asn)	rs118192132
NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys)	rs118192133
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala)	rs118192166
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile)	rs118192134
NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser)	rs118192136
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)	rs118192135
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)	rs118192138
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro)	rs118192139
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro)	rs118192179
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)	rs118192167
NM_000540.3(RYR1):c.14440C>T (p.Leu4814Phe)	rs118192142
NM_000540.3(RYR1):c.14447A>G (p.Asp4816Gly)	rs1974129338
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)	rs118192180
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val)	rs118192143
NM_000540.3(RYR1):c.14572A>G (p.Asn4858Asp)	rs118192144
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)	rs118192181
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)	rs63749869
NM_000540.3(RYR1):c.14587_14607del (p.Phe4863_Asp4869del)	rs118192169
NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys)	rs118192146
NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr)	rs118192147
NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter)	rs193922887
NM_000540.3(RYR1):c.14671G>C (p.Gly4891Arg)	rs118192149
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)	rs118192150
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)	rs118192151
NM_000540.3(RYR1):c.14678G>C (p.Arg4893Pro)	rs118192151
NM_000540.3(RYR1):c.14690G>T (p.Gly4897Val)	rs118192148
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)	rs118192170
NM_000540.3(RYR1):c.14696G>A (p.Gly4899Glu)	rs118192183
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val)	rs118192153
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly)	rs118192184
NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr)	rs118192154
NM_000540.3(RYR1):c.14759C>A (p.Thr4920Asn)	rs118192155
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)	rs1064794572
NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser)	rs118192156
NM_000540.3(RYR1):c.14773GTCATC[1] (p.4925VI[1])	rs193922893
NM_000540.3(RYR1):c.14804G>A (p.Gly4935Asp)
NM_000540.3(RYR1):c.14814C>G (p.Ile4938Met)	rs118192159
NM_000540.3(RYR1):c.1534G>A (p.Glu512Lys)	rs118192119
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)	rs193922772
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)	rs878854365
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)	rs1456276440
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr)	rs118192113
NM_000540.3(RYR1):c.2505del (p.Pro836fs)	rs797045932
NM_000540.3(RYR1):c.3485C>T (p.Thr1162Ile)	rs1280346095
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter)	rs1332371891
NM_000540.3(RYR1):c.644G>A (p.Gly215Glu)	rs118192115
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)	rs118192163
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	rs118192176
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs)	rs886041380
NM_000540.3(RYR1):c.6811_6836del (p.Thr2271fs)
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His)	rs118192121
NM_000540.3(RYR1):c.718C>T (p.Gln240Ter)
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	rs28933396
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)	rs118192124
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr)	rs118192123
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	rs118192178
NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp)	rs193922820
NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter)	rs1568510406
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)	rs758580075
NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter)	rs146514343
NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter)	rs1057518773
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys)	rs118192125
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)	rs1568440962
NP_000531.2:p.4894Q
NP_000531.2:p.F4860del
NP_000531.2:p.F4906del
NP_000531.2:p.G4893R
NP_000531.2:p.L4647del
Single allele
p.L4796C
p.M2434K

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