ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics and "likely pathogenic" from any submitter

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: 27
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134 0.00014
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414 0.00010
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_198076.6(COX20):c.92G>A (p.Arg31Gln) rs764620077 0.00007
NM_022835.3(PLEKHG2):c.1708G>A (p.Gly570Arg) rs370673772 0.00003
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 0.00001
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) rs752742151 0.00001
NM_145207.3(AFG2A):c.1877G>C (p.Trp626Ser) rs375343753 0.00001
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001723.7(DST):c.22del (p.Tyr8fs) rs775912185
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234

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