ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Genomic Research Center, Shahid Beheshti University of Medical Sciences and "likely pathogenic" 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: 81
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter) rs576724182 0.00041
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_199242.3(UNC13D):c.118-308C>T rs959968589 0.00021
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_005518.4(HMGCS2):c.181_182insCCAATATGGCCCTGGAGGCCAA (p.Val61fs) rs1553241079 0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430 0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter) rs386833649 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter) rs1218073575 0.00001
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys) rs387907040 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NM_000049.4(ASPA):c.244dup (p.Met82fs) rs756198538
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000199.5(SGSH):c.89-2A>G rs1369704445
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg) rs875989949
NM_000314.8(PTEN):c.196A>T (p.Lys66Ter) rs1554897271
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs) rs768027510
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_002887.4(RARS1):c.2T>C (p.Met1Thr) rs769713780
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005989.4(AKR1D1):c.796C>T (p.Arg266Ter) rs770247815
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter) rs1553444644
NM_014141.6(CNTNAP2):c.97+1G>A rs972116002
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys) rs761656636
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter) rs1833092121
NM_198239.2(CCN6):c.740_741del (p.Cys247fs) rs727503755
NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs) rs1488690709

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