ClinVar Miner

List of variants reported for Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay by Fulgent Genetics, Fulgent Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002585.4(PBX1):c.701+13T>G rs74118205 0.01519
NM_002585.4(PBX1):c.265+1G>A rs2101688490
NM_002585.4(PBX1):c.266-15_266-14insTT rs139680846

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