ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München and "uncertain significance" from any submitter

Minimum review status of the submission from Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München: Collection method of the submission from Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 52
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000132.4(F8):c.1748A>G (p.Asn583Ser) rs782657516 0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln) rs765548847 0.00002
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg) rs1457269547 0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu) rs1190944498 0.00001
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586 0.00001
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg) rs1410990711 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu) rs760635077 0.00001
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser) rs772606107 0.00001
NM_012123.4(MTO1):c.1261-5T>G rs1275100093 0.00001
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln) rs371179032 0.00001
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887 0.00001
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val) rs751139506 0.00001
NM_000051.4(ATM):c.2838+6T>C rs781730571
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly) rs2039600745
NM_000487.6(ARSA):c.937C>G (p.Arg313Gly) rs551472773
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp) rs1579729357
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001127178.3(PIGG):c.1030A>C (p.Met344Leu) rs757141700
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter) rs886042662
NM_001375380.1(EBF3):c.454C>T (p.Arg152Cys) rs2134623972
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del) rs63750688
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser) rs745643715
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004818.3(DDX23):c.1886T>G (p.Ile629Ser) rs1938405472
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del) rs753855245
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg) rs760854242
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser) rs928811814
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655

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