ClinVar Miner

List of variants in gene UFSP2 studied for not provided

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_018359.5(UFSP2):c.932G>C (p.Cys311Ser) rs75415917 0.01385
NM_018359.5(UFSP2):c.1296T>C (p.Ala432=) rs61730755 0.00847
NM_018359.5(UFSP2):c.963G>A (p.Glu321=) rs147970664 0.00518
NM_018359.5(UFSP2):c.1036G>A (p.Gly346Arg) rs139834558 0.00012
NM_018359.5(UFSP2):c.1283A>G (p.His428Arg) rs2095515802
NM_018359.5(UFSP2):c.1291G>C (p.Gly431Arg) rs768313407
NM_018359.5(UFSP2):c.857G>C (p.Gly286Ala) rs2477704051
NM_018359.5(UFSP2):c.876G>A (p.Gln292=)

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