ClinVar Miner

List of variants reported as likely pathogenic by Institute of Human Genetics,Klinikum rechts der Isar

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ClinVar version:
Total variants: 94
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HGVS dbSNP
NM_000080.4(CHRNE):c.1326+1G>A rs1430654625
NM_000116.5(TAZ):c.542-3C>G rs781795144
NM_000132.3(F8):c.1748A>G (p.Asn583Ser) rs782657516
NM_000147.4(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000238.3(KCNH2):c.2843G>A (p.Arg948His) rs199473011
NM_000255.4(MMUT):c.1142G>T (p.Gly381Val) rs1554159942
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser) rs1556016365
NM_000339.2(SLC12A3):c.1335_1335+5delGGTACT rs759801838
NM_000346.4(SOX9):c.515A>G (p.Tyr172Cys) rs1555629158
NM_000391.4(TPP1):c.1333_1344dup (p.Ser445_Ala448dup) rs1554901580
NM_000431.4(MVK):c.768+4A>G rs1295630463
NM_000444.6(PHEX):c.1966-9_1966-7del rs1556151004
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del) rs1554372756
NM_000833.5(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001100.3(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001101.5(ACTB):c.269_271del (p.Phe90del) rs1554329546
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001111.5(ADAR):c.3215G>T (p.Ser1072Ile) rs1553207540
NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001127221.1(CACNA1A):c.2147A>C (p.Asn716Thr) rs1555757432
NM_001130103.2(COL13A1):c.714+2T>C rs1554943789
NM_001195422.1(GTPBP3):c.1178T>C (p.Leu393Pro) rs770871640
NM_001195422.1(GTPBP3):c.506C>T (p.Ala169Val) rs774708853
NM_001278716.2(FBXL4):c.1540T>G (p.Trp514Gly) rs1411907961
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_001376.5(DYNC1H1):c.10280A>C (p.Gln3427Pro) rs1555411394
NM_001415.4(EIF2S3):c.431C>T (p.Thr144Ile) rs751468976
NM_001510.4(GRID2):c.671G>A (p.Arg224Gln) rs368143665
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001853.4(COL9A3):c.183+4A>C rs1555821817
NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile) rs1267554976
NM_002641.3(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002979.5(SCP2):c.825+1G>T rs144132787
NM_003159.2(CDKL5):c.554+1G>A rs1555950083
NM_003321.5(TUFM):c.989G>C (p.Arg330Pro) rs924099073
NM_003482.3(KMT2D):c.13378_13379insCA (p.His4460fs) rs1555187452
NM_003491.4(NAA10):c.259G>T (p.Ala87Ser) rs1557107543
NM_003705.5(SLC25A12):c.1618G>A (p.Asp540Asn) rs1553469156
NM_003919.3(SGCE):c.549_552del (p.Phe183fs) rs1554352952
NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu) rs371582393
NM_004092.4(ECHS1):c.676G>A (p.Ala226Thr) rs1318391499
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser) rs727503470
NM_004646.3(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586
NM_006567.5(FARS2):c.1163T>G (p.Ile388Ser) rs1407198979
NM_006567.5(FARS2):c.192C>G (p.Ser64Arg) rs1554169280
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006920.6(SCN1A):c.4443+5G>T rs1553522266
NM_006946.3(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_007075.3(WDR45):c.519+1_519+3delGTG rs1557084113
NM_007075.3(WDR45):c.953_954dup (p.Lys319fs) rs1557083878
NM_014191.4(SCN8A):c.4409A>C (p.Gln1470Pro) rs1555228771
NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro) rs1553506164
NM_014362.4(HIBCH):c.830T>A (p.Val277Glu) rs1553499757
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920
NM_014874.3(MFN2):c.1839dup (p.Thr614fs) rs1553145402
NM_015093.5(TAB2):c.878del (p.Ser293fs) rs1554263268
NM_015335.4(MED13L):c.2600C>T (p.Thr867Ile) rs1555246143
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016098.4(MPC1):c.214A>G (p.Lys72Glu) rs1554264977
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_018127.7(ELAC2):c.1028T>G (p.Met343Arg) rs1555575927
NM_018127.7(ELAC2):c.929A>C (p.Glu310Ala) rs1555576642
NM_018238.4(AGK):c.1211_1237del (p.Leu404_Lys412del) rs1554405947
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174
NM_020442.5(VARS2):c.1400G>C (p.Arg467Pro) rs775439829
NM_020442.5(VARS2):c.1463_1465del (p.Gly488del) rs1554268077
NM_020442.5(VARS2):c.511C>T (p.Arg171Trp) rs139515727
NM_020745.4(AARS2):c.1534G>C (p.Asp512His) rs146512155
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887
NM_021734.4(SLC25A19):c.240A>C (p.Lys80Asn) rs1175745274
NM_022445.4(TPK1):c.576T>G (p.Cys192Trp) rs1554523224
NM_024818.4(UBA5):c.910G>A (p.Asp304Asn) rs772888455
NM_032620.4(GTPBP3):c.517C>T (p.Arg173Trp) rs1274363168
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser) rs928811814
NM_080647.1(TBX1):c.385G>A (p.Glu129Lys) rs1445910672
NM_080877.2(SLC34A3):c.448+5G>A rs768893184
NM_133645.3(MTO1):c.1336-5T>G rs1275100093
NM_133645.3(MTO1):c.1504C>T (p.Arg502Cys) rs1033653237
NM_133645.3(MTO1):c.938G>A (p.Arg313Gln) rs371179032
NM_133645.3(MTO1):c.963A>C (p.Lys321Asn) rs1554148965
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168
NM_145207.3(SPATA5):c.2384C>G (p.Pro795Arg) rs1553934697
NM_145207.3(SPATA5):c.983_985CAA[2] (p.Thr330del) rs796052243
NM_152778.3(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro) rs1553265999
NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr) rs1555853970
NM_172107.4(KCNQ2):c.841G>C (p.Gly281Arg) rs794727813

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