List of variants in gene TTC21B reported as pathogenic for Nephronophthisis 12

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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_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	rs140511594	0.00011
NM_024753.5(TTC21B):c.2758-2A>G	rs766132877	0.00003
NM_024753.5(TTC21B):c.1A>G (p.Met1Val)	rs1435376086	0.00001
NM_024753.5(TTC21B):c.1176_1185+1del	rs1686809735
NM_024753.5(TTC21B):c.1656T>A (p.Cys552Ter)	rs387907059
NM_024753.5(TTC21B):c.1656_1659del (p.Leu551_Cys552insTer)	rs2105329247
NM_024753.5(TTC21B):c.497del (p.Lys166fs)	rs2105363277
NM_024753.5(TTC21B):c.553-2A>T	rs773580610

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