ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Genome Diagnostics Laboratory, The Hospital for Sick Children and "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: 54
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000088.4(COL1A1):c.3531+1G>A rs72656326
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_001042492.3(NF1):c.1722-2A>C rs763983337
NM_001042492.3(NF1):c.1738del (p.Tyr580fs) rs786204255
NM_001042492.3(NF1):c.1986del (p.Asn664fs) rs2066993468
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_001042492.3(NF1):c.2251+1G>T rs1555613843
NM_001042492.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_001042492.3(NF1):c.2326-1G>C rs1567848100
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro) rs137854566
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.3211G>C (p.Ala1071Pro) rs2067122183
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser) rs1555614848
NM_001042492.3(NF1):c.3736_3737del (p.Leu1246fs) rs2067186293
NM_001042492.3(NF1):c.3826del (p.Arg1276fs) rs2067188667
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4367del (p.Thr1456fs) rs2067637088
NM_001042492.3(NF1):c.4489del (p.Ser1497fs) rs2067664000
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu) rs1567863004
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg) rs1597829901
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu) rs1555533638
NM_001042492.3(NF1):c.58C>T (p.Gln20Ter) rs1567786905
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro) rs2069606635
NM_001042492.3(NF1):c.60+1G>C rs1555594500
NM_001042492.3(NF1):c.610dup (p.Leu204fs) rs1135402793
NM_001042492.3(NF1):c.6148-1G>C rs1555534661
NM_001042492.3(NF1):c.6148-2A>G rs2069681259
NM_001042492.3(NF1):c.6221del (p.Met2074fs) rs2069683635
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs) rs1597843186
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter) rs2069717916
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs) rs1555535027
NM_001042492.3(NF1):c.6939del (p.Ala2314fs) rs2069790028
NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer) rs2070076932
NM_001042492.3(NF1):c.7537C>T (p.Gln2513Ter) rs2070170274
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs) rs2070298589
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter) rs1555608970
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp) rs1555177629
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs) rs758015273

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