List of variants in gene TCTN3 reported as likely pathogenic for short rib dysplasia

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_015631.6(TCTN3):c.1203+1G>C	rs1221992171	0.00001
NM_015631.6(TCTN3):c.627+1G>A	rs1566074908	0.00001
NM_015631.6(TCTN3):c.1529_1532dup (p.Asn512fs)	rs2139731384
NM_015631.6(TCTN3):c.1760C>A (p.Ser587Ter)	rs2097923913
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer)	rs553175533
NM_015631.6(TCTN3):c.737-1G>C
NM_015631.6(TCTN3):c.853-2A>G
NM_015631.6(TCTN3):c.970-2A>G	rs777263669

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