ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Myriad Genetics, Inc. and "uncertain significance" from any submitter

Minimum review status of the submission from Myriad Genetics, Inc.: Collection method of the submission from Myriad Genetics, Inc.:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 35
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter) rs587780057 0.00174
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000153.4(GALC):c.1671-1G>A rs1182103005 0.00002
NM_000049.4(ASPA):c.634+1G>T rs753871454 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter) rs756032160 0.00001
NM_000038.6(APC):c.1042C>T (p.Arg348Ter) rs1314843920
NM_000038.6(APC):c.7964_7965del (p.Glu2655fs) rs2149997043
NM_000038.6(APC):c.8090C>G (p.Ser2697Ter)
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.588+5G>C rs267607768
NM_000249.4(MLH1):c.677+3A>T rs267607780
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter) rs2106076340
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter) rs752514155
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
NM_024675.4(PALB2):c.123del (p.Glu42fs) rs1967104136
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter) rs1218512317

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