ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Genome Diagnostics Laboratory, University Medical Center Utrecht and "uncertain significance" from any submitter

Minimum review status of the submission from Genome Diagnostics Laboratory, University Medical Center Utrecht: Collection method of the submission from Genome Diagnostics Laboratory, University Medical Center Utrecht:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 32
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_020297.4(ABCC9):c.4512+711G>A rs72559751 0.00006
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn) rs397516106 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_002667.5(PLN):c.26G>A (p.Arg9His) rs754782171 0.00003
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) rs376328153 0.00002
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg) rs565825739 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) rs727504244 0.00001
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp) rs2150277040
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val) rs727504558
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.689T>C (p.Phe230Ser) rs886038844
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys) rs886044196
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu) rs2076985517
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs) rs775629965

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