ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Department of Pathology and Laboratory Medicine, Sinai Health System and "likely pathogenic" from any submitter

Minimum review status of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System: Collection method of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 64
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00208
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser) rs200702528 0.00010
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_133259.4(LRPPRC):c.2210+4A>C rs190007694 0.00009
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_170784.3(MKKS):c.862G>A (p.Val288Ile) rs113032343 0.00003
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu) rs121912845 0.00001
NM_000546.6(TP53):c.472C>T (p.Arg158Cys) rs587780068 0.00001
NM_001048174.2(MUTYH):c.1102+1G>A rs587781337 0.00001
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp) rs587781864 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser) rs1582764697
NM_000369.5(TSHR):c.1462T>C (p.Trp488Arg) rs2140111252
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs) rs786203811
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.903+1G>A rs1554300689
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr) rs121913370
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004360.5(CDH1):c.2100del (p.Val701fs) rs1555517136
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_139242.4(MTFMT):c.669G>T (p.Leu223Phe) rs372732702
Single allele

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