ClinVar Miner

List of variants reported as likely pathogenic for Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 by Fulgent Genetics, Fulgent Genetics

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr) rs190101048 0.00005
NM_024753.5(TTC21B):c.2913dup (p.Val972fs) rs867205119 0.00005
NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter) rs771232897 0.00004
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_024753.5(TTC21B):c.3264-3C>G rs189122492 0.00003
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_024753.5(TTC21B):c.3130C>T (p.Arg1044Ter) rs202239983 0.00002
NM_024753.5(TTC21B):c.1087+1G>A rs776301212 0.00001
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) rs1183062277 0.00001
NM_024753.5(TTC21B):c.1386+1G>T rs764514397 0.00001
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) rs779134983 0.00001
NM_024753.5(TTC21B):c.3102-2A>G rs779472675 0.00001
NM_024753.5(TTC21B):c.553-2A>G rs773580610 0.00001
NM_024753.5(TTC21B):c.1088-1G>A rs753627675
NM_024753.5(TTC21B):c.1656_1659del (p.Leu551_Cys552insTer) rs2105329247
NM_024753.5(TTC21B):c.1713_1719delinsCAC (p.Gln571fs)
NM_024753.5(TTC21B):c.2458_2461+7del
NM_024753.5(TTC21B):c.270del (p.Ala91fs)
NM_024753.5(TTC21B):c.2951-1G>A
NM_024753.5(TTC21B):c.3340C>T (p.Gln1114Ter) rs1685080096
NM_024753.5(TTC21B):c.354del (p.Leu118fs)
NM_024753.5(TTC21B):c.3724del (p.Glu1242fs)
NM_024753.5(TTC21B):c.3871C>T (p.Gln1291Ter)
NM_024753.5(TTC21B):c.431del rs2468244727
NM_024753.5(TTC21B):c.607C>T (p.Gln203Ter)
NM_024753.5(TTC21B):c.778G>T (p.Glu260Ter)
NM_024753.5(TTC21B):c.928C>T (p.Gln310Ter)

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