ClinVar Miner

Variants with conflicting interpretations "benign" from Centre for Mendelian Genomics, University Medical Centre Ljubljana and "likely benign" 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: 26
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.1947+17T>G rs879174633 0.02464
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg) rs2276973 0.00877
NM_176811.2(NLRP8):c.142G>A (p.Val48Met) rs61738689 0.00793
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_052844.4(DYNC2I2):c.65C>T (p.Ala22Val) rs201715229 0.00258
NM_173728.4(ARHGEF15):c.1250G>T (p.Arg417Leu) rs142119277 0.00258
NM_001256545.2(MEGF10):c.218+17C>G rs72786483 0.00257
NM_014210.4(EVI2A):c.527A>G (p.Gln176Arg) rs144778786 0.00252
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971 0.00237
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_005051.3(QARS1):c.117+17C>T rs202012811 0.00167
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_001845.6(COL4A1):c.904-9C>T rs201481886 0.00116
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met) rs72954276 0.00078
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His) rs200410163 0.00015
NM_000465.4(BARD1):c.1678-18C>G rs376045331 0.00004
NM_182914.3(SYNE2):c.10432-17T>G rs376299946 0.00004
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823
NM_014795.4(ZEB2):c.593-18_593-17insTG rs776927209
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup) rs531550505

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