List of variants in gene TRIP4 reported as likely 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_016213.5(TRIP4):c.925C>T (p.Arg309Ter)	rs147303485	0.00006
NM_016213.5(TRIP4):c.760C>T (p.Arg254Ter)	rs869312827	0.00001
NM_016213.4:c.1359_1575del
NM_016213.5(TRIP4):c.1255C>T (p.Gln419Ter)	rs2140297426
NM_016213.5(TRIP4):c.336_339del (p.Gln113fs)	rs1900263561

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