ClinVar Miner

Variants in gene PLCB1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 28
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00997
NM_015192.4(PLCB1):c.2309-15A>C rs117816042 0.00563
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
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.2841A>G (p.Glu947=) rs35245209 0.00067
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=) rs45492700 0.00065
NM_015192.4(PLCB1):c.627A>G (p.Pro209=) rs151006778 0.00046
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336 0.00030
NM_015192.4(PLCB1):c.3607C>T (p.Leu1203=) rs150804955 0.00026
NM_015192.4(PLCB1):c.714A>C (p.Pro238=) rs147567110 0.00023
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=) rs189186909 0.00013
NM_015192.4(PLCB1):c.724G>A (p.Val242Ile) rs200567140 0.00013
NM_015192.4(PLCB1):c.1761A>G (p.Val587=) rs143755415 0.00012
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser) rs150241349 0.00012
NM_015192.4(PLCB1):c.3189-14C>T rs777913912 0.00007
NM_015192.4(PLCB1):c.1188G>A (p.Ala396=) rs202109404 0.00006
NM_015192.4(PLCB1):c.2112G>A (p.Leu704=) rs139095432 0.00006
NM_015192.4(PLCB1):c.1764-6G>C rs753832760 0.00004
NM_015192.4(PLCB1):c.3477C>T (p.Leu1159=) rs774970817 0.00002
NM_015192.4(PLCB1):c.1668A>G (p.Glu556=) rs886056963 0.00001
NM_015192.4(PLCB1):c.3447A>G (p.Glu1149=) rs142432676 0.00001
NM_015192.4(PLCB1):c.456G>A (p.Leu152=) rs200598979 0.00001
NM_015192.4(PLCB1):c.1854T>C (p.Gly618=) rs559952614
NM_015192.4(PLCB1):c.2571G>A (p.Thr857=) rs995077080
NM_015192.4(PLCB1):c.3135C>A (p.Val1045=) rs577076166

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