ClinVar Miner

Variants with conflicting interpretations "benign" from SIB Swiss Institute of Bioinformatics and "uncertain significance" from any submitter

Minimum review status of the submission from SIB Swiss Institute of Bioinformatics: Collection method of the submission from SIB Swiss Institute of Bioinformatics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387 0.00108
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009

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