ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Genesis Genome Database and "pathogenic" from any submitter

Minimum review status of the submission from Genesis Genome Database: Collection method of the submission from Genesis Genome Database:
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Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter) rs104894715 0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) rs104894708 0.00001
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292

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