List of variants reported as likely benign for Nemaline myopathy 9 by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 102

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HGVS	dbSNP	gnomAD frequency
NM_006063.3(KLHL41):c.197T>C (p.Ile66Thr)	rs116809051	0.00138
NM_006063.3(KLHL41):c.398G>A (p.Gly133Asp)	rs147294651	0.00105
NM_006063.3(KLHL41):c.913C>T (p.Leu305Phe)	rs149971244	0.00078
NM_006063.3(KLHL41):c.1186G>T (p.Val396Leu)	rs147650614	0.00045
NM_006063.3(KLHL41):c.1569T>C (p.Asp523=)	rs373954289	0.00034
NM_006063.3(KLHL41):c.783C>T (p.Gly261=)	rs141574405	0.00034
NM_006063.3(KLHL41):c.1476C>G (p.Val492=)	rs138411167	0.00029
NM_006063.3(KLHL41):c.1110+19A>G	rs369566057	0.00024
NM_006063.3(KLHL41):c.1756C>T (p.Arg586Cys)	rs28763871	0.00023
NM_006063.3(KLHL41):c.291T>C (p.Asp97=)	rs537913427	0.00020
NM_006063.3(KLHL41):c.777C>T (p.Phe259=)	rs562502714	0.00017
NM_006063.3(KLHL41):c.832G>A (p.Val278Met)	rs150233736	0.00017
NM_006063.3(KLHL41):c.207G>A (p.Ala69=)	rs373592757	0.00006
NM_006063.3(KLHL41):c.798T>C (p.Pro266=)	rs375564888	0.00005
NM_006063.3(KLHL41):c.366C>T (p.Cys122=)	rs199941904	0.00004
NM_006063.3(KLHL41):c.408A>G (p.Leu136=)	rs916381609	0.00004
NM_006063.3(KLHL41):c.535C>T (p.Leu179=)	rs779057492	0.00003
NM_006063.3(KLHL41):c.1110+20T>C	rs777968201	0.00002
NM_006063.3(KLHL41):c.1674A>G (p.Lys558=)	rs777120116	0.00002
NM_006063.3(KLHL41):c.102T>C (p.Asp34=)	rs748591565	0.00001
NM_006063.3(KLHL41):c.1111-14T>C	rs769561346	0.00001
NM_006063.3(KLHL41):c.1268+20C>A	rs1245384229	0.00001
NM_006063.3(KLHL41):c.1269-12G>A	rs573355443	0.00001
NM_006063.3(KLHL41):c.1284C>T (p.Asn428=)	rs373688807	0.00001
NM_006063.3(KLHL41):c.1314T>C (p.Tyr438=)	rs1463984577	0.00001
NM_006063.3(KLHL41):c.1390A>C (p.Arg464=)	rs778940575	0.00001
NM_006063.3(KLHL41):c.1512T>G (p.Thr504=)	rs1684148189	0.00001
NM_006063.3(KLHL41):c.1614C>A (p.Val538=)	rs1446150104	0.00001
NM_006063.3(KLHL41):c.1620G>A (p.Leu540=)	rs1157611870	0.00001
NM_006063.3(KLHL41):c.1709+20A>G	rs762480893	0.00001
NM_006063.3(KLHL41):c.300C>T (p.Asp100=)	rs768530305	0.00001
NM_006063.3(KLHL41):c.534A>G (p.Glu178=)	rs769507643	0.00001
NM_006063.3(KLHL41):c.795A>G (p.Glu265=)	rs1559129545	0.00001
NM_006063.3(KLHL41):c.813G>A (p.Ala271=)	rs747222396	0.00001
NM_006063.3(KLHL41):c.840T>A (p.Gly280=)	rs755378546	0.00001
NM_006063.3(KLHL41):c.1014C>T (p.Ser338=)
NM_006063.3(KLHL41):c.1017C>T (p.Ser339=)	rs1023118686
NM_006063.3(KLHL41):c.1038G>A (p.Gln346=)
NM_006063.3(KLHL41):c.1041A>T (p.Ile347=)
NM_006063.3(KLHL41):c.1095G>A (p.Gln365=)
NM_006063.3(KLHL41):c.1110+10A>G
NM_006063.3(KLHL41):c.1110+17G>A
NM_006063.3(KLHL41):c.1110+7A>G
NM_006063.3(KLHL41):c.1111-11G>A
NM_006063.3(KLHL41):c.1111-17A>G	rs2105309672
NM_006063.3(KLHL41):c.1111-19T>A
NM_006063.3(KLHL41):c.1113C>T (p.Leu371=)
NM_006063.3(KLHL41):c.1116T>C (p.Asp372=)	rs762618255
NM_006063.3(KLHL41):c.1152G>A (p.Leu384=)	rs764468679
NM_006063.3(KLHL41):c.1161C>T (p.Ala387=)
NM_006063.3(KLHL41):c.1173C>T (p.Phe391=)
NM_006063.3(KLHL41):c.1191T>C (p.Asp397=)
NM_006063.3(KLHL41):c.1239G>A (p.Ser413=)	rs376153838
NM_006063.3(KLHL41):c.1260T>C (p.Tyr420=)
NM_006063.3(KLHL41):c.1268+7T>A
NM_006063.3(KLHL41):c.1311C>T (p.Val437=)	rs780783546
NM_006063.3(KLHL41):c.135T>C (p.Pro45=)
NM_006063.3(KLHL41):c.1376+15C>T
NM_006063.3(KLHL41):c.1377-8G>T	rs1684143495
NM_006063.3(KLHL41):c.145T>C (p.Leu49=)
NM_006063.3(KLHL41):c.1560T>C (p.Asn520=)
NM_006063.3(KLHL41):c.1563-12A>T
NM_006063.3(KLHL41):c.1587C>G (p.Pro529=)
NM_006063.3(KLHL41):c.1605C>A (p.Ile535=)
NM_006063.3(KLHL41):c.1641T>C (p.Ile547=)	rs550333896
NM_006063.3(KLHL41):c.1662A>G (p.Gln554=)
NM_006063.3(KLHL41):c.1668G>A (p.Glu556=)
NM_006063.3(KLHL41):c.1710-20C>T
NM_006063.3(KLHL41):c.1710-4_1710-2del	rs1479320156
NM_006063.3(KLHL41):c.1710-4_1710-2dup
NM_006063.3(KLHL41):c.1710-6C>T
NM_006063.3(KLHL41):c.1712A>G (p.Tyr571Cys)
NM_006063.3(KLHL41):c.1758T>A (p.Arg586=)
NM_006063.3(KLHL41):c.1764T>C (p.Ala588=)
NM_006063.3(KLHL41):c.1776T>C (p.Ser592=)	rs2105314694
NM_006063.3(KLHL41):c.201T>C (p.Asp67=)
NM_006063.3(KLHL41):c.273G>A (p.Leu91=)	rs748989835
NM_006063.3(KLHL41):c.273G>T (p.Leu91=)	rs748989835
NM_006063.3(KLHL41):c.276C>T (p.Tyr92=)
NM_006063.3(KLHL41):c.33G>C (p.Leu11=)
NM_006063.3(KLHL41):c.375T>C (p.Tyr125=)
NM_006063.3(KLHL41):c.432T>C (p.Leu144=)
NM_006063.3(KLHL41):c.444G>A (p.Pro148=)
NM_006063.3(KLHL41):c.450C>T (p.Leu150=)
NM_006063.3(KLHL41):c.453C>A (p.Ala151=)
NM_006063.3(KLHL41):c.456T>C (p.Ile152=)	rs2105307992
NM_006063.3(KLHL41):c.549T>C (p.Ile183=)
NM_006063.3(KLHL41):c.612G>A (p.Val204=)
NM_006063.3(KLHL41):c.631A>C (p.Arg211=)
NM_006063.3(KLHL41):c.657T>C (p.Phe219=)	rs2105308093
NM_006063.3(KLHL41):c.699G>A (p.Lys233=)
NM_006063.3(KLHL41):c.717T>C (p.Asp239=)
NM_006063.3(KLHL41):c.771T>C (p.Asp257=)
NM_006063.3(KLHL41):c.78C>G (p.Leu26=)
NM_006063.3(KLHL41):c.801C>T (p.Ser267=)
NM_006063.3(KLHL41):c.810C>T (p.Ala270=)
NM_006063.3(KLHL41):c.897A>C (p.Gly299=)
NM_006063.3(KLHL41):c.922T>C (p.Leu308=)	rs2105308228
NM_006063.3(KLHL41):c.945G>A (p.Val315=)
NM_006063.3(KLHL41):c.960G>A (p.Thr320=)
NM_006063.3(KLHL41):c.960G>T (p.Thr320=)
NM_006063.3(KLHL41):c.99C>T (p.Ile33=)

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