ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Gharavi Laboratory, Columbia University and "likely benign" from any submitter

Minimum review status of the submission from Gharavi Laboratory, Columbia University: Collection method of the submission from Gharavi Laboratory, Columbia University:
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_004525.3(LRP2):c.6473A>C (p.Asn2158Thr) rs34052957 0.00157
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_004064.5(CDKN1B):c.-80C>T rs551236750 0.00021
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val) rs761575154 0.00008
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala) rs200277422 0.00008
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270 0.00008
NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg) rs765315726 0.00005
NM_002473.6(MYH9):c.5630G>A (p.Arg1877Gln) rs759777823 0.00004
NM_000455.5(STK11):c.566C>T (p.Thr189Ile) rs587781515 0.00003
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) rs781993685 0.00001
NM_000522.5(HOXA13):c.351_377del (p.Ala125_Ala133del) rs1195806602
NM_000522.5(HOXA13):c.360_377del (p.Ala128_Ala133del) rs35861510
NM_001374828.1(ARID1B):c.1211GAG[4] (p.Gly408_Gly411del) rs747790383
NM_001374828.1(ARID1B):c.1266GGC[1] (p.Ala431_Ala433del) rs765410747
NM_001374828.1(ARID1B):c.1281GGC[5] (p.Ala433dup) rs764418312
NM_001374828.1(ARID1B):c.1619CGG[5] (p.Ala543dup) rs757953295
NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[1] (p.Gln207_Gln214del) rs770869529
NM_001374828.1(ARID1B):c.615GCA[4] (p.Gln212_Gln214del) rs587779744
NM_001457.4(FLNB):c.4172_4173inv (p.Ala1391Val)
NM_001567.4(INPPL1):c.1893_1894delinsAA (p.Leu632Ile) rs1565392009
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer) rs113614842
NM_005515.4(MNX1):c.375CGC[7] (p.Ala133_Ala134del) rs548755417
NM_006005.3(WFS1):c.2563_2565delinsCCG (p.Ser855Pro) rs1560422132
NM_006015.6(ARID1A):c.48GCC[7] (p.Pro20_Pro21dup) rs748085214
NM_015330.6(SPECC1L):c.3326C>T (p.Thr1109Met) rs1247798129
NM_030665.4(RAI1):c.834GCA[16] (p.Gln289_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[7] (p.Gln286_Gln291del) rs371983878
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) rs757588621
NR_178195.1(LFNG):n.265_268GATG[8] rs34637446

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