ClinVar Miner

List of variants in gene MUC1 studied for familial juvenile hyperuricemic nephropathy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001204286.1(MUC1):c.93G>A (p.Thr31=) rs4072037 0.58553
NM_001044393.3(MUC1):c.295C>T (p.Arg99Cys) rs375090196 0.00015
NC_000001.10:g.(155160963_155162030)insC
NM_001204285.2(MUC1):c.1354-1G>A
NM_001204285.2(MUC1):c.184del (p.Ser62fs)
NM_001204285.2(MUC1):c.293_296dup (p.Ser100fs)
NM_002456.6(MUC1):c.159+5G>C
NM_002456.6(MUC1):c.253C>T (p.Gln85Ter) rs773704188
NM_002456.6(MUC1):c.430dup (p.Thr144fs) rs1667142761
NM_002456.6(MUC1):c.717del (p.Ser240fs)

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