List of variants in gene TRIP4 reported as pathogenic for prenatal-onset spinal muscular atrophy with congenital bone fractures

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_016213.5(TRIP4):c.832C>T (p.Arg278Ter)	rs761865592	0.00003
NM_016213.5(TRIP4):c.760C>T (p.Arg254Ter)	rs869312827	0.00001
NM_016213.5(TRIP4):c.135dup (p.Arg46fs)
NM_016213.5(TRIP4):c.239C>A (p.Ser80Ter)
NM_016213.5(TRIP4):c.265A>T (p.Lys89Ter)
NM_016213.5(TRIP4):c.890G>A (p.Trp297Ter)	rs1891715888

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