List of variants in gene TPM2 reported as pathogenic for developmental defect during embryogenesis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_003289.4(TPM2):c.70C>T (p.Gln24Ter)	rs201987709	0.00001
NM_003289.4(TPM2):c.121G>A (p.Glu41Lys)	rs137853306
NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del)	rs199476146
NM_003289.4(TPM2):c.220del (p.Ala74fs)
NM_003289.4(TPM2):c.271C>G (p.Arg91Gly)	rs104894127
NM_003289.4(TPM2):c.308A>G (p.Gln103Arg)	rs1563929383
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)	rs104894129
NM_003289.4(TPM2):c.374+2T>C	rs113612402
NM_003289.4(TPM2):c.394_396dup (p.Asn132dup)	rs2131852702
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp)	rs137853305
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)	rs199476153
NM_003289.4(TPM2):c.463G>A (p.Ala155Thr)	rs1563929039
NM_003289.4(TPM2):c.620_631dup (p.Gln210_Ala211insValGluAlaGln)	rs1587956195
NM_003289.4(TPM2):c.663T>A (p.Tyr221Ter)	rs1465836003
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)	rs1824676022

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