ClinVar Miner

List of variants studied for Fanconi renotubular syndrome 2

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003052.5(SLC34A1):c.774T>C (p.His258=) rs5030873 0.24542
NM_003052.5(SLC34A1):c.389-20C>T rs3812036 0.19698
NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser) rs34044544 0.00016
NM_003052.5(SLC34A1):c.1175-13G>A rs548223568 0.00002
NM_003052.5(SLC34A1):c.1069G>A (p.Gly357Arg) rs770557903 0.00001
NM_003052.5(SLC34A1):c.460_480dup (p.Ile154_Val160dup) rs1554095263
NM_003052.5(SLC34A1):c.504dup (p.Ile169fs)
NM_003052.5(SLC34A1):c.690dup (p.Val231fs)
NM_003052.5(SLC34A1):c.909G>C (p.Gln303His) rs768061577

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