ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Kariminejad - Najmabadi Pathology & Genetics Center and "pathogenic" from any submitter

Minimum review status of the submission from Kariminejad - Najmabadi Pathology & Genetics Center: Collection method of the submission from Kariminejad - Najmabadi Pathology & Genetics Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 65
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_000359.3(TGM1):c.425G>A (p.Arg142His) rs121918718 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) rs760956030 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) rs761714818 0.00004
NM_000789.4(ACE):c.1486C>T (p.Arg496Ter) rs397514688 0.00003
NM_014239.4(EIF2B2):c.254T>A (p.Val85Glu) rs397514648 0.00003
NM_015959.4(TMX2):c.614G>A (p.Arg205Gln) rs370455806 0.00003
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207 0.00002
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794 0.00001
NM_006129.5(BMP1):c.34G>C (p.Gly12Arg) rs318240762 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter) rs1580023012
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser) rs66527965
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) rs121913648
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) rs121908556
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000359.3(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000426.4(LAMA2):c.6038del (p.Leu2012_Leu2013insTer) rs398123380
NM_000454.5(SOD1):c.313A>T (p.Ile105Phe) rs121912445
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys) rs2148019913
NM_000494.4(COL17A1):c.3579G>A (p.Trp1193Ter) rs1237394833
NM_000540.3(RYR1):c.14437C>T (p.His4813Tyr) rs2145895177
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_001134665.3(TRMT10A):c.277C>T (p.Arg93Ter) rs1314619609
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) rs387906574
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln) rs1602292076
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp) rs1553704446
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505
NM_001927.4(DES):c.1289-2A>G rs398122940
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser) rs1589630141
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_005562.3(LAMC2):c.3365T>G (p.Leu1122Ter) rs1660173338
NM_005859.5(PURA):c.363C>G (p.Tyr121Ter) rs587782996
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_014363.6(SACS):c.3281dup (p.Asn1094fs) rs2137636957
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_020435.4(GJC2):c.970_971dup (p.Ala325fs) rs1085307499
NM_020919.4(ALS2):c.1640+1G>A rs2106074229
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_024596.5(MCPH1):c.321del (p.Lys107fs) rs759663956
NM_024747.6(HPS6):c.1692dup (p.Phe565fs) rs1384342700
NM_033305.3(VPS13A):c.4956+1G>A rs1085307823
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter) rs1833092121
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp) rs121908462

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