ClinVar Miner

List of variants in gene PKD1L1 reported as uncertain significance for congenital anomaly of cardiovascular system

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_138295.5(PKD1L1):c.7827+6C>T rs145827073 0.00195
NM_138295.5(PKD1L1):c.913C>T (p.Pro305Ser) rs201201664 0.00024
NM_138295.5(PKD1L1):c.5158C>T (p.His1720Tyr) rs145499325 0.00009
NM_138295.5(PKD1L1):c.5557C>T (p.Pro1853Ser) rs1002732318 0.00004
NM_138295.5(PKD1L1):c.-15C>T rs375091152 0.00003
NM_138295.5(PKD1L1):c.8438C>T (p.Pro2813Leu) rs748675283 0.00003
NM_138295.5(PKD1L1):c.6357G>A (p.Glu2119=) rs140064044 0.00002
NM_138295.5(PKD1L1):c.7294C>T (p.Pro2432Ser) rs137918330 0.00002
NM_138295.5(PKD1L1):c.578G>A (p.Cys193Tyr) rs199720987 0.00001
NM_138295.5(PKD1L1):c.1060+4del rs781240034
NM_138295.5(PKD1L1):c.1606C>T (p.Leu536=)
NM_138295.5(PKD1L1):c.2005A>G (p.Ile669Val)
NM_138295.5(PKD1L1):c.2027C>T (p.Pro676Leu)
NM_138295.5(PKD1L1):c.2325_2326delinsAG (p.Arg776Gly)
NM_138295.5(PKD1L1):c.2454-18C>G rs372682154
NM_138295.5(PKD1L1):c.3818G>T (p.Gly1273Val)
NM_138295.5(PKD1L1):c.3994C>T (p.Arg1332Cys)
NM_138295.5(PKD1L1):c.5378C>T (p.Pro1793Leu)
NM_138295.5(PKD1L1):c.6848C>T (p.Ala2283Val)
NM_138295.5(PKD1L1):c.7718A>G (p.Tyr2573Cys)
NM_138295.5(PKD1L1):c.8059C>T (p.Pro2687Ser)

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