ClinVar Miner

List of variants studied for childhood-onset nemaline myopathy by Mendelics

Included ClinVar conditions (13):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001101362.3(KBTBD13):c.798A>G (p.Glu266=) rs2919359 0.86820
NM_001101362.3(KBTBD13):c.242C>T (p.Ala81Val) rs2919358 0.46622
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_006063.3(KLHL41):c.811G>A (p.Ala271Thr) rs28763868 0.08132
NM_001164508.2(NEB):c.24304_24305dup (p.Leu8102fs) rs1559207733 0.00001
NM_001100.4(ACTA1):c.1004C>G (p.Pro335Arg) rs1057518493
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe) rs1571892196
NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg) rs1571893885
NM_001100.4(ACTA1):c.359A>T (p.Lys120Met) rs2102736219
NM_001100.4(ACTA1):c.762C>G (p.Asn254Lys) rs1571892988
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001164508.2(NEB):c.1674+2T>C rs1553603437
NM_001164508.2(NEB):c.17635-3dup rs3214503
NM_001164508.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001164508.2(NEB):c.20467-2A>C rs1392500142
NM_001164508.2(NEB):c.22272+2dup rs773465809
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter) rs1576203853
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg) rs1575897069
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter) rs1575714905
NM_001164508.2(NEB):c.23847del (p.Glu7950fs) rs1575305566
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs) rs2153020985
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001164508.2(NEB):c.2943G>A (p.Glu981=) rs398124170
NM_001164508.2(NEB):c.870_873del (p.Ser290fs) rs2150050727
NM_001164508.2(NEB):c.8889+1G>A rs1553963960
NM_152263.4(TPM3):c.43G>A (p.Asp15Asn) rs1553251644
NM_152263.4(TPM3):c.7G>C (p.Glu3Gln) rs1571456678

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