ClinVar Miner

List of variants in gene PRG4, TPR studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003292.3(TPR):c.*1130G>C rs1657377652
NM_005807.6(PRG4):c.3917_3934del (p.Arg1306_Ser1311del) rs1571587012
NM_005807.6(PRG4):c.4029G>A (p.Trp1343Ter)
NM_005807.6(PRG4):c.4101C>G (p.Tyr1367Ter) rs1388040598
NM_005807.6(PRG4):c.4190_4191delinsAG (p.Ser1397Ter) rs387906339

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