ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Pathology and Clinical Laboratory Medicine, King Fahad Medical City and "likely pathogenic" from any submitter

Minimum review status of the submission from Pathology and Clinical Laboratory Medicine, King Fahad Medical City: Collection method of the submission from Pathology and Clinical Laboratory Medicine, King Fahad Medical City:
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_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter) rs777327250 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe) rs1555568335
NM_000123.4(ERCC5):c.2427del (p.Asp809fs) rs777455688
NM_000282.4(PCCA):c.2119-2A>G rs867315913
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000396.4(CTSK):c.830C>T (p.Ala277Val) rs74315304
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys) rs1808782267
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter) rs1289499829
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser) rs121918104
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_006031.6(PCNT):c.398del (p.Phe133fs) rs1131691484
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_022356.4(P3H1):c.570_571del (p.Gly191fs) rs1553143741
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624

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