ClinVar Miner

List of variants in gene PKD1L1 studied for visceral heterotaxy

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_138295.5(PKD1L1):c.7173+31G>A rs6463449 0.98446
NM_138295.5(PKD1L1):c.3814A>G (p.Lys1272Glu) rs1470859 0.86841
NM_138295.5(PKD1L1):c.7963-33A>G rs1466203 0.84115
NM_138295.5(PKD1L1):c.1229-16A>G rs1474283 0.71820
NM_138295.5(PKD1L1):c.6180T>C (p.Pro2060=) rs921634 0.71557
NM_138295.5(PKD1L1):c.4961-38C>T rs10280228 0.40134
NM_138295.5(PKD1L1):c.5237+38T>C rs13237611 0.38615
NM_138295.5(PKD1L1):c.3896+38A>G rs62447062 0.37266
NM_138295.5(PKD1L1):c.3784+44C>G rs4724654 0.37222
NM_138295.5(PKD1L1):c.3784+18T>C rs4724655 0.37208
NM_138295.5(PKD1L1):c.3520+28C>G rs17131896 0.36977
NM_138295.5(PKD1L1):c.3501C>T (p.Tyr1167=) rs62447081 0.36755
NM_138295.5(PKD1L1):c.3813C>T (p.Gly1271=) rs73105162 0.32993
NM_138295.5(PKD1L1):c.3785-7C>T rs17131867 0.32980
NM_138295.5(PKD1L1):c.3267T>A (p.Ala1089=) rs10951936 0.29797
NM_138295.5(PKD1L1):c.1931+22G>A rs11766212 0.29397
NM_138295.5(PKD1L1):c.6720A>G (p.Ala2240=) rs7788583 0.20573
NM_138295.5(PKD1L1):c.6062C>T (p.Pro2021Leu) rs66755489 0.16688
NM_138295.5(PKD1L1):c.7347-5T>C rs73103467 0.14955
NM_138295.5(PKD1L1):c.8053G>A (p.Ala2685Thr) rs13231277 0.14434
NM_138295.5(PKD1L1):c.933T>C (p.Arg311=) rs75505495 0.02894
NM_138295.5(PKD1L1):c.6113C>G (p.Thr2038Ser) rs79131011 0.01486
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.2599C>T (p.Leu867=) rs150638179 0.00332
NM_138295.5(PKD1L1):c.2220C>T (p.Leu740=) rs143353908 0.00316
NM_138295.5(PKD1L1):c.7827+6C>T rs145827073 0.00195
NM_138295.5(PKD1L1):c.3624A>G (p.Ala1208=) rs139854035 0.00110
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.913C>T (p.Pro305Ser) rs201201664 0.00024
NM_138295.5(PKD1L1):c.5158C>T (p.His1720Tyr) rs145499325 0.00009
NM_138295.5(PKD1L1):c.8005C>T (p.Arg2669Ter) rs137883370 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.160+1G>A rs753911740 0.00002
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.5072G>C (p.Cys1691Ser) rs886037834 0.00001
NM_138295.5(PKD1L1):c.5086_5087del (p.Lys1696fs) rs867742191 0.00001
NM_138295.5(PKD1L1):c.578G>A (p.Cys193Tyr) rs199720987 0.00001
NM_138295.5(PKD1L1):c.6396G>A (p.Trp2132Ter) rs765720584 0.00001
NM_138295.5(PKD1L1):c.1060+4del rs781240034
NM_138295.5(PKD1L1):c.1071del (p.His358fs)
NM_138295.5(PKD1L1):c.1279G>T (p.Glu427Ter)
NM_138295.5(PKD1L1):c.1387C>T (p.Gln463Ter)
NM_138295.5(PKD1L1):c.1529_1530del (p.Ser510fs)
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.2453+1G>A
NM_138295.5(PKD1L1):c.2454-18C>G rs372682154
NM_138295.5(PKD1L1):c.2667G>A (p.Ser889=)
NM_138295.5(PKD1L1):c.3011del (p.Ala1004fs)
NM_138295.5(PKD1L1):c.310G>A (p.Ala104Thr)
NM_138295.5(PKD1L1):c.3158G>C (p.Arg1053Pro) rs10274334
NM_138295.5(PKD1L1):c.3601C>T (p.Gln1201Ter) rs1786435779
NM_138295.5(PKD1L1):c.3818G>T (p.Gly1273Val)
NM_138295.5(PKD1L1):c.3833C>A (p.Pro1278Gln) rs78833972
NM_138295.5(PKD1L1):c.3994C>T (p.Arg1332Cys)
NM_138295.5(PKD1L1):c.4039C>T (p.Arg1347Ter) rs370984700
NM_138295.5(PKD1L1):c.4362+46dup rs34177211
NM_138295.5(PKD1L1):c.4798_4799del (p.Gln1600fs)
NM_138295.5(PKD1L1):c.4938T>G (p.Tyr1646Ter) rs2128741114
NM_138295.5(PKD1L1):c.5378C>T (p.Pro1793Leu)
NM_138295.5(PKD1L1):c.6124del (p.His2042fs)
NM_138295.5(PKD1L1):c.6473+2_6473+3del rs528302390
NM_138295.5(PKD1L1):c.6748C>T (p.Arg2250Ter)
NM_138295.5(PKD1L1):c.6848C>T (p.Ala2283Val)
NM_138295.5(PKD1L1):c.7011G>A (p.Trp2337Ter)
NM_138295.5(PKD1L1):c.7718A>G (p.Tyr2573Cys)
NM_138295.5(PKD1L1):c.7825C>T (p.Gln2609Ter)
NM_138295.5(PKD1L1):c.8059C>T (p.Pro2687Ser)
NM_138295.5(PKD1L1):c.8096_8105del (p.Lys2699fs)
NM_138295.5(PKD1L1):c.8132G>A (p.Arg2711Gln)

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