ClinVar Miner

List of variants in gene ERMARD reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_018341.3(ERMARD):c.1695G>A (p.Thr565=) rs144899015 0.00274
NM_018341.3(ERMARD):c.265C>A (p.Gln89Lys) rs148450358 0.00270
NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile) rs143351214 0.00145
NM_018341.3(ERMARD):c.1480C>G (p.Arg494Gly) rs144908519 0.00131
NM_018341.3(ERMARD):c.241C>T (p.His81Tyr) rs137971039 0.00081
NM_018341.3(ERMARD):c.1200A>T (p.Arg400Ser) rs139634957 0.00012
NM_018341.3(ERMARD):c.1394+4C>T rs370765538 0.00005
NM_018341.3(ERMARD):c.1419T>C (p.Asn473=) rs570581453 0.00004
NM_018341.3(ERMARD):c.189_199del (p.Asp63fs) rs1428587956
NM_018341.3(ERMARD):c.897G>A (p.Glu299=) rs2128348267

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