ClinVar Miner

List of variants in gene FRMPD4 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001368397.1(FRMPD4):c.1401C>G (p.Val467=) rs6641078 0.11823
NM_001368397.1(FRMPD4):c.2007T>C (p.Leu669=) rs67823099 0.08669
NM_001368397.1(FRMPD4):c.1470+9C>T rs7877197 0.05406
NM_001368397.1(FRMPD4):c.388G>A (p.Ala130Thr) rs139449383 0.00095
NM_001368397.1(FRMPD4):c.2072G>T (p.Gly691Val) rs200183778 0.00022
NM_001368397.1(FRMPD4):c.1224T>C (p.His408=) rs200736738 0.00021
NM_001368397.1(FRMPD4):c.2599A>G (p.Asn867Asp) rs144170600 0.00015
NM_001368397.1(FRMPD4):c.222G>A (p.Pro74=) rs779251615 0.00001
NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=) rs41303149

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