ClinVar Miner

List of variants reported as likely pathogenic for Congenital myopathy with fiber type disproportion

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) rs778603129 0.00001
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser) rs397516127
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2192C>G (p.Pro731Arg) rs1247313340
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.5560-2A>C rs1566521710
NM_000432.4(MYL2):c.499T>C (p.Ter167Gln) rs2071647433
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.3(RYR1):c.2338dup (p.Val780fs) rs1967603354
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr) rs193922810
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.8446A>G (p.Met2816Val) rs775492883
NM_001100.4(ACTA1):c.143G>C (p.Gly48Ala)
NM_001100.4(ACTA1):c.581_589del (p.Ile194_Glu197delinsLys) rs1659962077
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer) rs797045950
NM_152263.4(TPM3):c.118-12G>A
NM_152263.4(TPM3):c.43G>C (p.Asp15His) rs1553251644
NM_152263.4(TPM3):c.535C>T (p.Arg179Cys)

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