ClinVar Miner

List of variants in gene LOC130064357, RYR1 studied for RYR1-Related Disorders

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Total variants: 45
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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.13332C>T (p.Gly4444=) rs745683436 0.00008
NM_000540.3(RYR1):c.13288G>T (p.Gly4430Trp) rs1192218827 0.00003
NM_000540.3(RYR1):c.13313T>G (p.Val4438Gly) rs1328605630 0.00002
NM_000540.3(RYR1):c.13287C>T (p.Ala4429=) rs1476679715 0.00001
NM_000540.3(RYR1):c.13290G>T (p.Gly4430=) rs527530809 0.00001
NM_000540.3(RYR1):c.13311G>T (p.Ala4437=) rs1399733263 0.00001
NM_000540.3(RYR1):c.13329G>A (p.Gly4443=) rs1013631358 0.00001
NM_000540.3(RYR1):c.13334C>G (p.Pro4445Arg) rs905232339 0.00001
NM_000540.3(RYR1):c.13341G>A (p.Arg4447=) rs375750351 0.00001
NM_000540.3(RYR1):c.13279C>T (p.His4427Tyr) rs1973378079
NM_000540.3(RYR1):c.13279_13282del (p.His4427fs)
NM_000540.3(RYR1):c.13280_13301del (p.His4427fs)
NM_000540.3(RYR1):c.13281C>T (p.His4427=)
NM_000540.3(RYR1):c.13282G>A (p.Glu4428Lys) rs2145847025
NM_000540.3(RYR1):c.13289G>A (p.Gly4430Glu) rs1973378919
NM_000540.3(RYR1):c.13290G>A (p.Gly4430=) rs527530809
NM_000540.3(RYR1):c.13292_13296dup (p.Gly4433fs)
NM_000540.3(RYR1):c.13295del (p.Gly4432fs) rs1568584027
NM_000540.3(RYR1):c.13299T>C (p.Gly4433=)
NM_000540.3(RYR1):c.13301_13314dup (p.Ala4439fs) rs1973379457
NM_000540.3(RYR1):c.13302C>T (p.Ala4434=)
NM_000540.3(RYR1):c.13303G>A (p.Asp4435Asn)
NM_000540.3(RYR1):c.13305C>T (p.Asp4435=) rs1973380495
NM_000540.3(RYR1):c.13307_13312dup (p.Gly4436_Ala4437dup) rs2145847208
NM_000540.3(RYR1):c.13308_13312del (p.Ala4437fs)
NM_000540.3(RYR1):c.13314G>T (p.Val4438=)
NM_000540.3(RYR1):c.13317C>G (p.Ala4439=)
NM_000540.3(RYR1):c.13321_13331del (p.Thr4441fs) rs1973381731
NM_000540.3(RYR1):c.13323C>T (p.Thr4441=) rs1973381859
NM_000540.3(RYR1):c.13324G>T (p.Asp4442Tyr) rs757011909
NM_000540.3(RYR1):c.13329G>C (p.Gly4443=) rs1013631358
NM_000540.3(RYR1):c.13330G>A (p.Gly4444Ser) rs1293782698
NM_000540.3(RYR1):c.13331_13351dup (p.Gly4444_Gly4450dup) rs1358102336
NM_000540.3(RYR1):c.13333C>G (p.Pro4445Ala) rs1428771915
NM_000540.3(RYR1):c.13335del (p.Phe4446fs) rs1555800097
NM_000540.3(RYR1):c.13336T>A (p.Phe4446Ile)
NM_000540.3(RYR1):c.13337T>A (p.Phe4446Tyr) rs1262128592
NM_000540.3(RYR1):c.13339C>G (p.Arg4447Gly)
NM_000540.3(RYR1):c.13340G>T (p.Arg4447Leu)
NM_000540.3(RYR1):c.13342C>G (p.Pro4448Ala) rs886054407
NM_000540.3(RYR1):c.13342C>T (p.Pro4448Ser) rs886054407
NM_000540.3(RYR1):c.13343C>G (p.Pro4448Arg)
NM_000540.3(RYR1):c.13344C>T (p.Pro4448=)
NM_000540.3(RYR1):c.13345G>A (p.Glu4449Lys)

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