ClinVar Miner

List of variants in gene LOC130064357, RYR1 studied for congenital multicore myopathy with external ophthalmoplegia

Included ClinVar conditions (7):
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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_000540.3(RYR1):c.13313T>G (p.Val4438Gly) rs1328605630 0.00002
NM_000540.3(RYR1):c.13334C>G (p.Pro4445Arg) rs905232339 0.00001
NM_000540.3(RYR1):c.13279C>T (p.His4427Tyr) rs1973378079
NM_000540.3(RYR1):c.13331_13351dup (p.Gly4444_Gly4450dup) rs1358102336
NM_000540.3(RYR1):c.13342C>T (p.Pro4448Ser) rs886054407

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