ClinVar Miner

Variants in gene combination C1QTNF5, MFRP with conflicting interpretations reported as "uncertain significance and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_031433.4(MFRP):c.160C>G (p.Arg54Gly) rs139436396 0.00934
NM_015645.5(C1QTNF5):c.-2701G>A rs883246 0.00656
NM_031433.4(MFRP):c.773-8A>C rs143891457 0.00264
NM_031433.4(MFRP):c.-108G>A rs143241967 0.00115
NM_031433.4(MFRP):c.192C>G (p.Arg64=) rs200143181 0.00019
NM_031433.4(MFRP):c.807G>A (p.Gln269=) rs371537663 0.00003

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