ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Genomic Research Center, Shahid Beheshti University of Medical Sciences and "uncertain significance" from any submitter

Minimum review status of the submission from Genomic Research Center, Shahid Beheshti University of Medical Sciences: Collection method of the submission from Genomic Research Center, Shahid Beheshti University of Medical Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 30
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HGVS dbSNP gnomAD frequency
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_000085.5(CLCNKB):c.656-31del rs751608665 0.00046
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter) rs572380130 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_001032382.2(PQBP1):c.778C>T (p.Arg260Ter) rs781987043 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001918.5(DBT):c.902G>A (p.Arg301His) rs770981889 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894 0.00001
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter) rs201114595
NM_000048.4(ASL):c.1079T>C (p.Met360Thr) rs875989948
NM_000049.4(ASPA):c.437_449del (p.Ser146fs) rs2073669074
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_003850.3(SUCLA2):c.751G>A (p.Asp251Asn) rs397515462
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val) rs1555256440
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719

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