ClinVar Miner

List of variants in gene PKD1L1 reported as likely benign for congenital anomaly of cardiovascular system

Included ClinVar conditions (333):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_138295.5(PKD1L1):c.2675+4C>T rs143005953 0.00651
NM_138295.5(PKD1L1):c.4040G>A (p.Arg1347Gln) rs79519739 0.00474
NM_138295.5(PKD1L1):c.2969G>A (p.Arg990Gln) rs141646493 0.00434
NM_138295.5(PKD1L1):c.7418C>T (p.Ser2473Phe) rs140456142 0.00080
NM_138295.5(PKD1L1):c.6898G>A (p.Val2300Ile) rs560253616 0.00072
NM_138295.5(PKD1L1):c.310G>A (p.Ala104Thr)

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