ClinVar Miner

List of variants studied for TPM2-related myopathy by Baylor Genetics

Included ClinVar conditions (23):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) rs200128474 0.00036
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) rs143701391 0.00021
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg) rs398124359 0.00020
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676 0.00016
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=) rs2229149 0.00009
NM_000540.3(RYR1):c.1593C>T (p.Gly531=) rs927675372 0.00009
NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met) rs150977342 0.00006
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000540.3(RYR1):c.251C>T (p.Thr84Met) rs186983396 0.00004
NM_000540.3(RYR1):c.6352C>T (p.Arg2118Trp) rs148660840 0.00003
NM_000540.3(RYR1):c.821G>C (p.Arg274Pro) rs368711923 0.00003
NM_000540.3(RYR1):c.10496G>C (p.Arg3499Pro) rs138324438 0.00001
NM_000540.3(RYR1):c.10609A>G (p.Lys3537Glu) rs1009040238 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg) rs565825739 0.00001
NM_000540.3(RYR1):c.9560G>A (p.Arg3187Gln) rs1171145743 0.00001
NM_000540.3(RYR1):c.12094+4A>G rs1972431144
NM_000540.3(RYR1):c.12889G>C (p.Val4297Leu) rs1973345393
NM_000540.3(RYR1):c.13192G>A (p.Gly4398Arg) rs1472582325
NM_000540.3(RYR1):c.1349A>G (p.Tyr450Cys) rs1967156624
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter) rs1456276440
NM_000540.3(RYR1):c.2449C>G (p.Arg817Gly) rs150633775
NM_000540.3(RYR1):c.2654G>T (p.Arg885Leu) rs370634440
NM_000540.3(RYR1):c.3094C>G (p.Arg1032Gly) rs374477216
NM_000540.3(RYR1):c.3695C>T (p.Pro1232Leu) rs1363931971
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.8223G>C (p.Glu2741Asp) rs1970371040
NM_001100.4(ACTA1):c.1A>G (p.Met1Val) rs1659988389
NM_003289.4(TPM2):c.773-5C>G rs1230541017
NM_152263.4(TPM3):c.262T>C (p.Ser88Pro) rs1558052214

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