ClinVar Miner

List of variants studied for Central core myopathy by MGZ Medical Genetics Center

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.12886C>T (p.Arg4296Trp) rs995399684 0.00038
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys) rs547608972 0.00026
NM_000540.3(RYR1):c.7336G>A (p.Gly2446Ser) rs375148516 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00005
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met) rs193922884 0.00001
NM_000540.3(RYR1):c.1492A>T (p.Thr498Ser) rs1284376538 0.00001
NM_000540.3(RYR1):c.9703A>C (p.Ser3235Arg) rs747488155 0.00001
NM_000540.3(RYR1):c.10749GGA[1] (p.Glu3584del) rs2514489108
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs) rs193922856
NM_000540.3(RYR1):c.1440+2T>G rs1555767403
NM_000540.3(RYR1):c.14596A>G (p.Lys4866Glu) rs2514752302
NM_000540.3(RYR1):c.14599A>G (p.Ser4867Gly) rs778201386
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.2753A>G (p.Asn918Ser) rs775780413
NM_000540.3(RYR1):c.6811_6836del (p.Thr2271fs) rs2514294206
NM_000540.3(RYR1):c.6995T>G (p.Leu2332Arg) rs2514308731
NM_000540.3(RYR1):c.7426A>T (p.Ile2476Phe) rs867677386

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