List of variants reported as benign for Congenital myopathy with fiber type disproportion by Illumina Laboratory Services, Illumina

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_001100.4(ACTA1):c.-65T>C	rs605430	0.63378
NM_001100.4(ACTA1):c.-66C>T	rs605428	0.63204
NM_152263.4(TPM3):c.*2185C>T	rs10908723	0.31228
NM_152263.4(TPM3):c.*4968A>G	rs4446955	0.30357
NM_152263.4(TPM3):c.*1032T>G	rs6673171	0.30289
NM_152263.4(TPM3):c.*5856T>G	rs3196889	0.29506
NM_001100.4(ACTA1):c.130-5T>C	rs11803533	0.26300
NM_001100.4(ACTA1):c.130-10G>C	rs41271481	0.20392
NM_152263.4(TPM3):c.*2565G>A	rs6661996	0.14338
NM_152263.4(TPM3):c.*2719G>A	rs11265201	0.14156
NM_152263.4(TPM3):c.*2784C>T	rs9628669	0.14121
NM_152263.4(TPM3):c.*3822G>T	rs12063890	0.13205
NM_152263.4(TPM3):c.*2211A>C	rs6672584	0.12577
NM_001100.4(ACTA1):c.996C>A (p.Ile332=)	rs74897770	0.01792
NM_152263.4(TPM3):c.*2409G>C	rs142369480	0.01324
NM_152263.4(TPM3):c.*1791G>A	rs114799756	0.01140
NM_001100.4(ACTA1):c.453C>A (p.Thr151=)	rs76030344	0.00904
NM_152263.4(TPM3):c.*4062G>A	rs140590273	0.00864
NM_152263.4(TPM3):c.*5149G>A	rs78002555	0.00760
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr)	rs62000429	0.00596
NM_152263.4(TPM3):c.*2069C>T	rs140536164	0.00588
NM_152263.4(TPM3):c.*4154C>T	rs145053113	0.00545
NM_152263.4(TPM3):c.*3497T>C	rs144544045	0.00465
NM_152263.4(TPM3):c.*878A>G	rs116789181	0.00321
NM_001100.4(ACTA1):c.*248G>A	rs551585351	0.00161
NM_001100.4(ACTA1):c.786G>C (p.Thr262=)	rs141030526	0.00119
NM_152263.4(TPM3):c.*1291A>G	rs375670563	0.00094
NM_001100.4(ACTA1):c.132C>T (p.Gly44=)	rs146956806	0.00064
NM_152263.4(TPM3):c.*1130C>T	rs143058197	0.00061
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)	rs142311664	0.00050
NM_001100.4(ACTA1):c.549G>A (p.Ala183=)	rs200094415	0.00045
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)	rs770931836	0.00001
NM_001100.4(ACTA1):c.809-14G>C	rs6673359
NM_152263.4(TPM3):c.*1247dup	rs72189266

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