ClinVar Miner

List of variants reported as uncertain significance for Nemaline myopathy 9

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Total variants: 14
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HGVS dbSNP
NM_006063.3(KLHL41):c.1081G>C (p.Asp361His)
NM_006063.3(KLHL41):c.1192G>T (p.Asp398Tyr)
NM_006063.3(KLHL41):c.1276A>G (p.Lys426Glu) rs750512280
NM_006063.3(KLHL41):c.1421A>G (p.Asp474Gly)
NM_006063.3(KLHL41):c.1457C>T (p.Ser486Phe)
NM_006063.3(KLHL41):c.1562A>G (p.Lys521Arg) rs778003504
NM_006063.3(KLHL41):c.1696A>G (p.Asn566Asp) rs1237694295
NM_006063.3(KLHL41):c.175C>T (p.Arg59Cys) rs547547946
NM_006063.3(KLHL41):c.427_429CTT[2] (p.Leu145del) rs760524187
NM_006063.3(KLHL41):c.437A>C (p.Asp146Ala)
NM_006063.3(KLHL41):c.443C>T (p.Pro148Leu)
NM_006063.3(KLHL41):c.614G>A (p.Arg205Gln) rs576773055
NM_006063.3(KLHL41):c.832G>A (p.Val278Met) rs150233736
NM_006063.3(KLHL41):c.959C>A (p.Thr320Lys) rs781536513

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