ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "uncertain significance" from any submitter

Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 25
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HGVS dbSNP gnomAD frequency
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) rs778050996 0.00002
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser) rs769218623 0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_053025.4(MYLK):c.901C>T (p.Gln301Ter) rs545515041 0.00001
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly) rs2146717703
NM_001042492.3(NF1):c.590C>G (p.Thr197Arg) rs1597658021
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser) rs1064794963
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_005862.3(STAG1):c.659A>G (p.His220Arg) rs1057519153
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_016032.4(ZDHHC9):c.496G>A (p.Asp166Asn) rs2124105757
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
Single allele

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