ClinVar Miner

List of variants in gene PLCB1 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.99+8T>C rs6086350 0.04369
NM_015192.4(PLCB1):c.*97A>G rs41275590 0.02442
NM_015192.4(PLCB1):c.2711-154C>G rs112748737 0.02191
NM_015192.4(PLCB1):c.247-162C>G rs6133595 0.01667
NM_015192.4(PLCB1):c.3424-78T>C rs77083364 0.01631
NM_015192.4(PLCB1):c.595-70A>G rs73895069 0.01498
NM_015192.4(PLCB1):c.924A>G (p.Ser308=) rs6056003 0.01487
NM_015192.4(PLCB1):c.2199G>A (p.Val733=) rs8118206 0.01438
NM_015192.4(PLCB1):c.2931-177T>C rs139326062 0.01330
NM_015192.4(PLCB1):c.3423+151A>C rs45561932 0.01306
NM_015192.4(PLCB1):c.178-15G>A rs6055775 0.01196
NM_015192.4(PLCB1):c.2044-281G>A rs150693921 0.01161
NM_015192.4(PLCB1):c.246+62046A>G rs76394150 0.01150
NM_015192.4(PLCB1):c.3423+12087C>A rs116691803 0.01049
NM_015192.4(PLCB1):c.3423+11684C>T rs78180194 0.01048
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00997
NM_015192.4(PLCB1):c.1513+242C>T rs144615771 0.00961
NM_015192.4(PLCB1):c.2523+306C>T rs140928369 0.00956
NM_015192.4(PLCB1):c.2413+9C>T rs138442805 0.00934
NM_015192.4(PLCB1):c.384+231C>T rs117690478 0.00867
NM_015192.4(PLCB1):c.3111+98G>A rs76806571 0.00848
NM_015192.4(PLCB1):c.3111+120A>T rs80131314 0.00847
NM_015192.4(PLCB1):c.1678+106C>A rs45559635 0.00844
NM_015192.4(PLCB1):c.2524-164C>T rs78793206 0.00747
NM_015192.4(PLCB1):c.595-333G>A rs147797979 0.00747
NM_015192.4(PLCB1):c.2043+219G>A rs184392635 0.00725
NM_015192.4(PLCB1):c.1763+55A>G rs149664182 0.00724
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299 0.00721
NM_015192.4(PLCB1):c.2308+178C>T rs112682541 0.00697
NM_015192.4(PLCB1):c.2309-30G>A rs111394675 0.00696
NM_015192.4(PLCB1):c.-330C>T rs532302075 0.00673
NM_015192.4(PLCB1):c.595-49C>A rs145047916 0.00662
NM_015192.4(PLCB1):c.246+158C>T rs148907691 0.00639
NM_015192.4(PLCB1):c.862+265C>T rs145030237 0.00629
NM_015192.4(PLCB1):c.1168-33G>A rs151025537 0.00606
NM_015192.4(PLCB1):c.1009+153C>T rs143224597 0.00581
NM_015192.4(PLCB1):c.2308+43G>A rs148386086 0.00562
NM_015192.4(PLCB1):c.100-283G>A rs141140026 0.00512
NM_015192.4(PLCB1):c.1167+7T>C rs45466294 0.00492
NM_015192.4(PLCB1):c.3279-234C>T rs143075526 0.00454
NM_015192.4(PLCB1):c.246+61913G>C rs144176666 0.00416
NM_015192.4(PLCB1):c.1679-17G>A rs139542242 0.00372
NM_015192.4(PLCB1):c.2209-152C>T rs190700066 0.00372
NM_015192.4(PLCB1):c.582T>C (p.Leu194=) rs150770296 0.00354
NM_015192.4(PLCB1):c.1582-241G>A rs183694737 0.00318
NM_015192.4(PLCB1):c.2657-92T>C rs111540716 0.00304
NM_015192.4(PLCB1):c.1336-18G>A rs140846963 0.00274
NM_015192.4(PLCB1):c.3111+96G>T rs568559259 0.00272
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_015192.4(PLCB1):c.2673T>G (p.Pro891=) rs142813933 0.00260
NM_015192.4(PLCB1):c.1168-156G>A rs142786771 0.00243
NM_015192.4(PLCB1):c.3336+95C>T rs530499821 0.00243
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) rs141433824 0.00137
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=) rs145869401 0.00110
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00103
NM_015192.4(PLCB1):c.3607C>T (p.Leu1203=) rs150804955 0.00026
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg) rs186429469 0.00016
NM_015192.4(PLCB1):c.639A>C (p.Arg213Ser) rs140899287 0.00014
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser) rs150241349 0.00012
NM_015192.4(PLCB1):c.246+26A>G rs547790493 0.00001
NM_015192.4(PLCB1):c.1168-157C>T rs148545469
NM_015192.4(PLCB1):c.1679-34T>C
NM_015192.4(PLCB1):c.2208+31A>C rs116339467
NM_015192.4(PLCB1):c.2524-329A>C rs75603202
NM_015192.4(PLCB1):c.2656+238G>A rs111274692
NM_015192.4(PLCB1):c.3424-263_3424-262insTGTGTGTGCG rs369188885
NM_015192.4(PLCB1):c.3424-263_3424-262insTGTGTGTGTGTGTGCG rs369188885
NM_015192.4(PLCB1):c.3424-293GT[20] rs3222517
NM_015192.4(PLCB1):c.385-264_385-263del rs138359630
NM_015192.4(PLCB1):c.464+256C>A rs138904904
NM_015192.4(PLCB1):c.863-124A>G rs45611036
NM_015192.4(PLCB1):c.863-57C>T rs59327455
NM_015192.4(PLCB1):c.863-62dup rs61201694

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