ClinVar Miner

List of variants reported as uncertain significance for familial cystic renal disease by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.5830G>A (p.Gly1944Arg) rs200001471 0.00016
NM_001009944.3(PKD1):c.4057G>A (p.Gly1353Ser) rs1474271392 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_000297.4(PKD2):c.2117A>T (p.Lys706Met)
NM_001009944.3(PKD1):c.11261T>C (p.Leu3754Pro) rs2151701845
NM_001009944.3(PKD1):c.12206C>T (p.Thr4069Ile)
NM_001009944.3(PKD1):c.12326G>T (p.Arg4109Leu)
NM_001009944.3(PKD1):c.1364T>C (p.Phe455Ser)
NM_001009944.3(PKD1):c.1558G>A (p.Asp520Asn)
NM_001009944.3(PKD1):c.1771A>C (p.Thr591Pro)
NM_001009944.3(PKD1):c.2081C>T (p.Pro694Leu)
NM_001009944.3(PKD1):c.3308T>G (p.Leu1103Arg) rs2151801930
NM_001009944.3(PKD1):c.4670G>T (p.Arg1557Leu)
NM_001009944.3(PKD1):c.4781G>T (p.Gly1594Val)
NM_001009944.3(PKD1):c.5515T>C (p.Trp1839Arg)
NM_001009944.3(PKD1):c.6185A>G (p.Gln2062Arg)
NM_001009944.3(PKD1):c.7864-3_7896del
NM_003361.4(UMOD):c.1093C>T (p.Arg365Trp)
NM_003361.4(UMOD):c.1372G>A (p.Val458Met)
NM_003361.4(UMOD):c.263G>A (p.Gly88Asp) rs2141676609
NM_003361.4(UMOD):c.359G>A (p.Cys120Tyr)
NM_003361.4(UMOD):c.725T>A (p.Ile242Asn)
NM_014270.5(SLC7A9):c.1297C>T (p.Pro433Ser)
NM_138694.4(PKHD1):c.10997T>C (p.Ile3666Thr)
NM_138694.4(PKHD1):c.11533C>A (p.Pro3845Thr)
NM_138694.4(PKHD1):c.446C>T (p.Pro149Leu) rs1582123954
NM_138694.4(PKHD1):c.5236G>A (p.Gly1746Ser)
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=) rs398124489
NM_138694.4(PKHD1):c.5801G>T (p.Trp1934Leu)
NM_138694.4(PKHD1):c.6427G>A (p.Gly2143Arg)
NM_138694.4(PKHD1):c.6903G>T (p.Val2301=)
NM_138694.4(PKHD1):c.8762T>G (p.Val2921Gly)
NM_138694.4(PKHD1):c.8861C>T (p.Thr2954Ile)
NM_138694.4(PKHD1):c.8899G>A (p.Gly2967Arg)
NM_138694.4(PKHD1):c.9289G>A (p.Ala3097Thr)
NM_138694.4(PKHD1):c.93C>A (p.Ser31Arg)
NM_173543.3(DZIP1L):c.1000-4T>C
NM_173543.3(DZIP1L):c.1825G>A (p.Gly609Arg)

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