ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute of Human Genetics, University Hospital of Duesseldorf and "likely pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, University Hospital of Duesseldorf: Collection method of the submission from Institute of Human Genetics, University Hospital of Duesseldorf:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 27
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_003119.4(SPG7):c.861+2dup rs771256761 0.00004
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) rs371707778 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001374828.1(ARID1B):c.3061C>T (p.Gln1021Ter)
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)

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