ClinVar Miner

List of variants in gene combination LOC129992813, PKD2 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.356G>A (p.Arg119His) rs748654180 0.00010
NM_000297.4(PKD2):c.514G>T (p.Asp172Tyr) rs886059698 0.00004
NM_000297.4(PKD2):c.587G>C (p.Gly196Ala) rs1377684533 0.00002
NM_000297.4(PKD2):c.251G>A (p.Arg84Gln) rs1326556150 0.00001
NM_000297.4(PKD2):c.485C>T (p.Pro162Leu) rs1034653764 0.00001
NM_000297.4(PKD2):c.109G>A (p.Gly37Ser) rs1007960523
NM_000297.4(PKD2):c.235C>T (p.Leu79Phe) rs1726235229

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