ClinVar Miner

List of variants in gene KLHL41 studied for Nemaline myopathy 9

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Total variants: 40
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HGVS dbSNP
NM_006063.3(KLHL41):c.1081G>C (p.Asp361His)
NM_006063.3(KLHL41):c.1186G>T (p.Val396Leu) rs147650614
NM_006063.3(KLHL41):c.1192G>T (p.Asp398Tyr)
NM_006063.3(KLHL41):c.1238C>T (p.Ser413Leu) rs730882260
NM_006063.3(KLHL41):c.1251A>G (p.Val417=) rs79580851
NM_006063.3(KLHL41):c.1276A>G (p.Lys426Glu) rs750512280
NM_006063.3(KLHL41):c.1296del (p.Lys432fs)
NM_006063.3(KLHL41):c.1421A>G (p.Asp474Gly)
NM_006063.3(KLHL41):c.1441A>G (p.Met481Val) rs34623017
NM_006063.3(KLHL41):c.1457C>T (p.Ser486Phe)
NM_006063.3(KLHL41):c.1562A>G (p.Lys521Arg) rs778003504
NM_006063.3(KLHL41):c.1569T>C (p.Asp523=) rs373954289
NM_006063.3(KLHL41):c.15G>A (p.Arg5=) rs144048872
NM_006063.3(KLHL41):c.1620G>A (p.Leu540=) rs1157611870
NM_006063.3(KLHL41):c.168_175del (p.Pro56_Tyr57insTer) rs1247404453
NM_006063.3(KLHL41):c.1696A>G (p.Asn566Asp) rs1237694295
NM_006063.3(KLHL41):c.1737T>C (p.Ala579=) rs76875207
NM_006063.3(KLHL41):c.1748_1755del (p.Lys583fs) rs730882258
NM_006063.3(KLHL41):c.175C>T (p.Arg59Cys) rs547547946
NM_006063.3(KLHL41):c.197T>C (p.Ile66Thr) rs116809051
NM_006063.3(KLHL41):c.215dup (p.Glu73fs) rs775513051
NM_006063.3(KLHL41):c.291T>C (p.Asp97=) rs537913427
NM_006063.3(KLHL41):c.398G>A (p.Gly133Asp) rs147294651
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.459delinsACTC (p.Ala154_Arg155insLeu) rs730882257
NM_006063.3(KLHL41):c.519A>G (p.Gln173=) rs144844327
NM_006063.3(KLHL41):c.575_577AAG[2] (p.Glu194del) rs730882259
NM_006063.3(KLHL41):c.614G>A (p.Arg205Gln) rs576773055
NM_006063.3(KLHL41):c.641del (p.Asn214fs) rs730882235
NM_006063.3(KLHL41):c.652G>A (p.Val218Met) rs147527225
NM_006063.3(KLHL41):c.684A>C (p.Thr228=) rs141395388
NM_006063.3(KLHL41):c.832G>A (p.Val278Met) rs150233736
NM_006063.3(KLHL41):c.840T>A (p.Gly280=) rs755378546
NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg) rs139415849
NM_006063.3(KLHL41):c.8C>T (p.Ser3Phe) rs28730867
NM_006063.3(KLHL41):c.913C>T (p.Leu305Phe) rs149971244
NM_006063.3(KLHL41):c.930_939del (p.Asn310fs)
NM_006063.3(KLHL41):c.959C>A (p.Thr320Lys) rs781536513

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