ClinVar Miner

List of variants in gene KLHL41 reported as benign for Nemaline myopathy 9

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Total variants: 9
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HGVS dbSNP
NM_006063.3(KLHL41):c.1251A>G (p.Val417=) rs79580851
NM_006063.3(KLHL41):c.1441A>G (p.Met481Val) rs34623017
NM_006063.3(KLHL41):c.15G>A (p.Arg5=) rs144048872
NM_006063.3(KLHL41):c.1737T>C (p.Ala579=) rs76875207
NM_006063.3(KLHL41):c.519A>G (p.Gln173=) rs144844327
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.863T>G (p.Leu288Arg) rs139415849
NM_006063.3(KLHL41):c.8C>T (p.Ser3Phe) rs28730867

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