ClinVar Miner

List of variants studied for Nephrotic syndrome, type 8

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004309.6(ARHGDIA):c.*243G>A rs189865523 0.00085
NM_004309.6(ARHGDIA):c.*41A>G rs201139992
NM_004309.6(ARHGDIA):c.151T>C (p.Tyr51His) rs2143431058
NM_004309.6(ARHGDIA):c.275-20G>T rs372602369
NM_004309.6(ARHGDIA):c.358C>T (p.Arg120Ter) rs587777553
NM_004309.6(ARHGDIA):c.518G>T (p.Gly173Val) rs587777552
NM_004309.6(ARHGDIA):c.547GAC[2] (p.Asp185del) rs587776969

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