ClinVar Miner

List of variants studied for Focal segmental glomerulosclerosis 7 by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000278.5(PAX2):c.1049G>C (p.Ser350Thr) rs1589910427
NM_000278.5(PAX2):c.148C>T (p.Arg50Trp) rs759356936
NM_000278.5(PAX2):c.1A>G (p.Met1Val) rs767150408
NM_000278.5(PAX2):c.272C>T (p.Ala91Val) rs1589813617

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