ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine and "likely benign" from any submitter

Minimum review status of the submission from Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine: Collection method of the submission from Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
NM_001378902.1(ROS1):c.1121G>C (p.Gly374Ala) rs61743088 0.00050
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291 0.00004
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517 0.00004
NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His) rs782304760 0.00003
NM_000153.4(GALC):c.1162-4del rs11300320
Single allele

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