List of variants reported as pathogenic for Asphyxiating thoracic dystrophy 4; Nephronophthisis 12

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Total variants: 5

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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.1038G>A (p.Trp346Ter)	rs2105344578
NM_024753.5(TTC21B):c.1320del (p.Phe440fs)	rs775836730
NM_024753.5(TTC21B):c.264_267dupTAGA	rs748514860
NM_024753.5(TTC21B):c.3087del (p.Gly1030fs)	rs2105291970

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