ClinVar Miner

Variants with conflicting interpretations "likely benign" from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics and "uncertain significance" from Mayo Clinic Laboratories, Mayo Clinic

Minimum review status of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 22
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303 0.00633
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570 0.00522
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser) rs74882337 0.00469
NM_001916.5(CYC1):c.227T>C (p.Met76Thr) rs144257411 0.00400
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_007208.4(MRPL3):c.931G>A (p.Gly311Ser) rs148679749 0.00303
NM_014639.4(SKIC3):c.1765G>A (p.Ala589Thr) rs147622709 0.00295
NM_020442.6(VARS2):c.2293G>A (p.Val765Met) rs55865499 0.00270
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327 0.00260
NM_002016.2(FLG):c.7801G>A (p.Asp2601Asn) rs146849256 0.00112
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile) rs140942230 0.00109
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399 0.00106
NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr) rs141639003 0.00096
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819 0.00084
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) rs782168634 0.00001
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148

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