ClinVar Miner

List of variants studied for cystic kidney disease by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_001429.4(EP300):c.1781C>T (p.Thr594Met) rs750740148 0.00002
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter) rs765251347 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_001009944.3(PKD1):c.377C>T (p.Pro126Leu) rs1567219166
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_003361.4(UMOD):c.382_383insT (p.Asn128fs)

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