ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg) rs145319149 0.00126
NM_031433.4(MFRP):c.976-14A>C rs200069261 0.00050
NM_031433.4(MFRP):c.159T>C (p.Gly53=) rs372897338 0.00011
NM_031433.4(MFRP):c.1256-4G>A rs142533439 0.00010
NM_031433.4(MFRP):c.897G>A (p.Ser299=) rs150284394 0.00009
NM_031433.4(MFRP):c.705C>T (p.Phe235=) rs34190279 0.00008
NM_031433.4(MFRP):c.861C>T (p.Asp287=) rs140710522 0.00008
NM_031433.4(MFRP):c.898+5G>A rs201089284 0.00006
NM_031433.4(MFRP):c.271+10C>T rs554865241 0.00004
NM_031433.4(MFRP):c.321C>T (p.Ala107=) rs562580805 0.00004
NM_031433.4(MFRP):c.1461C>A (p.Ile487=) rs202139926 0.00003
NM_031433.4(MFRP):c.1506C>T (p.Ser502=) rs773497972 0.00003
NM_031433.4(MFRP):c.303C>T (p.Ser101=) rs530322096 0.00002
NM_001278431.2(C1QTNF5):c.198C>T (p.Gly66=) rs932268494 0.00001
NM_001278431.2(C1QTNF5):c.306G>A (p.Pro102=) rs751346951 0.00001
NM_031433.4(MFRP):c.909G>C (p.Gly303=) rs777996384

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