ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Genome Diagnostics Laboratory, The Hospital for Sick Children and "likely pathogenic" from any submitter

Minimum review status of the submission from Genome Diagnostics Laboratory, The Hospital for Sick Children: Collection method of the submission from Genome Diagnostics Laboratory, The Hospital for Sick Children:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 49
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661 0.00016
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00010
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730 0.00001
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter) rs1193716348 0.00001
NM_000088.4(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1183_1185+2del rs1555611039
NM_001042492.3(NF1):c.1185+1G>T rs864622161
NM_001042492.3(NF1):c.1260+2T>C rs1555611110
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.2251+1G>C rs1555613843
NM_001042492.3(NF1):c.2252-1G>C rs587781577
NM_001042492.3(NF1):c.2252-2A>G rs1131691105
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs) rs1555614866
NM_001042492.3(NF1):c.3497-1G>A rs1555615004
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter) rs1555533555
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter) rs1555533569
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter) rs786203570
NM_001042492.3(NF1):c.5610-2A>T rs1135402876
NM_001042492.3(NF1):c.587-2A>G rs1057518360
NM_001042492.3(NF1):c.655-2A>C rs1555608734
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.888+1G>C rs1135402799
NM_001042492.3(NF1):c.889-1G>A rs587781517

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