ClinVar Miner

List of variants reported as uncertain significance for central core myopathy by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.3389G>A (p.Arg1130His) rs371498385 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_000540.3(RYR1):c.11778+3G>C rs758215068 0.00004
NM_000540.3(RYR1):c.10582A>G (p.Thr3528Ala) rs562359442 0.00001
NM_000540.3(RYR1):c.7215-3C>T rs1190472871 0.00001
NM_000540.3(RYR1):c.11308C>G (p.His3770Asp)
NM_000540.3(RYR1):c.11990A>G (p.His3997Arg)
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.13565C>A (p.Pro4522His) rs145167688
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.3(RYR1):c.1384G>A (p.Glu462Lys) rs199592055
NM_000540.3(RYR1):c.13858G>A (p.Ala4620Thr)
NM_000540.3(RYR1):c.14594A>G (p.Asn4865Ser)
NM_000540.3(RYR1):c.14624T>A (p.Met4875Lys)
NM_000540.3(RYR1):c.1888C>G (p.Leu630Val) rs2145406736
NM_000540.3(RYR1):c.2172C>G (p.His724Gln)
NM_000540.3(RYR1):c.334C>T (p.His112Tyr)
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.4582T>A (p.Phe1528Ile)
NM_000540.3(RYR1):c.5227G>A (p.Ala1743Thr)
NM_000540.3(RYR1):c.6340C>A (p.Pro2114Thr)
NM_000540.3(RYR1):c.8557G>A (p.Glu2853Lys)

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