ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from SIB Swiss Institute of Bioinformatics and "likely pathogenic" from any submitter

Minimum review status of the submission from SIB Swiss Institute of Bioinformatics: Collection method of the submission from SIB Swiss Institute of Bioinformatics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 24
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HGVS dbSNP gnomAD frequency
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met) rs371709824 0.00009
NM_003504.5(CDC45):c.1388C>T (p.Pro463Leu) rs751663397 0.00004
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys) rs1572996700
NM_001318852.2(MAPK8IP3):c.1201G>A (p.Gly401Arg) rs1596711175
NM_001318852.2(MAPK8IP3):c.1577G>A (p.Arg526Gln) rs1596780112
NM_001318852.2(MAPK8IP3):c.2985C>G (p.His995Gln) rs1163583945
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_002437.5(MPV17):c.107A>C (p.Gln36Pro) rs762327729
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003676.4(DEGS1):c.565A>G (p.Asn189Asp) rs771864122
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp) rs1567948262
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
NM_014727.3(KMT2B):c.5114G>A (p.Arg1705Gln) rs1555731980
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1]) rs1398218251
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511

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