List of variants in gene TOR1AIP1 reported as likely pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2Y

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_015602.4(TOR1AIP1):c.1427C>T (p.Ala476Val)	rs201518227	0.00006
NM_015602.4(TOR1AIP1):c.553+1G>A	rs1180978840
NM_015602.4(TOR1AIP1):c.553+1_553+10del	rs750028739
NM_015602.4(TOR1AIP1):c.554-4_554-1delinsAC	rs1647993845
NM_015602.4(TOR1AIP1):c.739+1G>A	rs900977276
NM_015602.4(TOR1AIP1):c.797-2A>T	rs756798409
NM_015602.4(TOR1AIP1):c.838+2T>A
NM_015602.4(TOR1AIP1):c.906_907+5del	rs1571735403
NM_015602.4(TOR1AIP1):c.907+1G>A
NM_015602.4(TOR1AIP1):c.961C>T (p.Arg321Ter)	rs11581962

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