ClinVar Miner

List of variants studied for Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu) rs140384742 0.00054
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) rs183367929 0.00019
NM_024753.5(TTC21B):c.2972G>A (p.Arg991His) rs141708554 0.00003
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys) rs184586093 0.00003
NM_024753.5(TTC21B):c.1479_1482del (p.Thr494fs) rs1686551975
NM_024753.5(TTC21B):c.2687C>T (p.Ala896Val) rs768486051

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