ClinVar Miner

List of variants studied for Renal cyst

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509 0.00006
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.[9428_9429insCACGA;9432_9433del]
NM_003990.3(PAX2):c.213-1_225delGGTACTACGAGACC rs1057518761
NM_016306.6(DNAJB11):c.70C>T (p.Arg24Ter) rs2108473228
NM_138694.4(PKHD1):c.3622dup (p.Leu1208fs) rs2128151491

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