List of variants reported as uncertain significance for congenital myopathy 23 by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_003289.4(TPM2):c.*194C>T	rs561175276	0.00068
NM_213674.1(TPM2):c.-238C>T	rs886063908	0.00020
NM_213674.1(TPM2):c.-158C>A	rs886063907	0.00014
NM_003289.4(TPM2):c.*99A>G	rs879505630	0.00007
NM_003289.4(TPM2):c.*199C>T	rs965743785	0.00002
NM_003289.4(TPM2):c.773-3C>A	rs199476157	0.00002
NM_003289.4(TPM2):c.*22C>A	rs1824669468
NM_003289.4(TPM2):c.-92C>T	rs886063906
NM_003289.4(TPM2):c.569G>A (p.Cys190Tyr)	rs1369077598
NM_003289.4(TPM2):c.760G>A (p.Asp254Asn)	rs1419786293
NM_213674.1(TPM2):c.-118G>A	rs986048371
NM_213674.1(TPM2):c.-142C>T	rs1825166266

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