ClinVar Miner

List of variants in gene TTC21B reported as likely pathogenic for Jeune thoracic dystrophy; Nephronophthisis

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.1386+1G>T rs764514397 0.00002
NM_024753.5(TTC21B):c.1087+1G>A rs776301212 0.00001
NM_024753.5(TTC21B):c.3102-2A>G rs779472675 0.00001
NM_024753.5(TTC21B):c.553-2A>G rs773580610 0.00001
NC_000002.11:g.(?_166767817)_(166806254_?)dup
NM_024753.5(TTC21B):c.1516+1G>A
NM_024753.5(TTC21B):c.1516+2T>G rs748598334
NM_024753.5(TTC21B):c.152-1G>A rs371396651
NM_024753.5(TTC21B):c.152-2A>G rs760214276
NM_024753.5(TTC21B):c.1900-1G>T
NM_024753.5(TTC21B):c.1900-2A>G
NM_024753.5(TTC21B):c.2138+1G>T
NM_024753.5(TTC21B):c.2461+1G>A
NM_024753.5(TTC21B):c.2868+1G>T rs1685487857
NM_024753.5(TTC21B):c.2869-2A>G rs1553508246
NM_024753.5(TTC21B):c.3263+1G>A rs1574070787
NM_024753.5(TTC21B):c.3684+1G>A
NM_024753.5(TTC21B):c.711-2A>C rs1686972152
NM_024753.5(TTC21B):c.895-1G>A rs773008707

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