List of variants in gene TPM1 reported as likely pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)	rs730881151	0.00002
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val)	rs397516376	0.00001
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val)	rs199476322	0.00001
NM_001018005.2(TPM1):c.161A>C (p.Glu54Ala)
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn)	rs754664923
NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr)	rs199476310
NM_001018005.2(TPM1):c.292G>A (p.Glu98Lys)	rs730881131
NM_001018005.2(TPM1):c.40G>T (p.Asp14Tyr)	rs876661210
NM_001018005.2(TPM1):c.433G>A (p.Glu145Lys)
NM_001018005.2(TPM1):c.45G>T (p.Lys15Asn)	rs199476301
NM_001018005.2(TPM1):c.52G>A (p.Ala18Thr)
NM_001018005.2(TPM1):c.538G>A (p.Glu180Lys)	rs1555409132
NM_001018005.2(TPM1):c.539A>T (p.Glu180Val)	rs104894502
NM_001018005.2(TPM1):c.541G>C (p.Glu181Gln)
NM_001018005.2(TPM1):c.616T>G (p.Ser206Ala)	rs2035667597
NM_001018005.2(TPM1):c.710C>G (p.Thr237Ser)	rs2140974070

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