ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Centre for Mendelian Genomics, University Medical Centre Ljubljana and "likely pathogenic" from any submitter

Minimum review status of the submission from Centre for Mendelian Genomics, University Medical Centre Ljubljana: Collection method of the submission from Centre for Mendelian Genomics, University Medical Centre Ljubljana:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 37
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) rs104894187 0.00002
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) rs375909217 0.00002
NM_033163.5(FGF8):c.451G>A (p.Gly151Ser) rs606231407 0.00002
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000153.4(GALC):c.1898C>T (p.Thr633Met) rs766762599 0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys) rs780351691 0.00001
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683 0.00001
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887 0.00001
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) rs121908552
NM_001005373.4(LRSAM1):c.175-2A>T rs1035054313
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg) rs1402571360
NM_001040142.2(SCN2A):c.5485C>T (p.Leu1829Phe) rs1553463676
NM_001042492.3(NF1):c.479+5G>T rs1567818033
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His) rs1057521250
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu) rs2034823903
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834

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