ClinVar Miner

List of variants studied for Renal cysts and diabetes syndrome by Broad Institute Rare Disease Group, Broad Institute

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) rs71653619 0.00688
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.1258dup (p.His420fs) rs1598809697
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
NM_000458.4(HNF1B):c.215del (p.Gly72fs)
NM_000458.4(HNF1B):c.344+2_344+5del
NM_000458.4(HNF1B):c.526C>T (p.Gln176Ter)
NM_000458.4(HNF1B):c.935dup (p.Leu313fs)
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)

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