ClinVar Miner

List of variants in gene CEMIP reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001293298.2(CEMIP):c.249G>A (p.Leu83=) rs35541581 0.06893
NM_001293298.2(CEMIP):c.3777G>A (p.Val1259=) rs35526763 0.01606
NM_001293298.2(CEMIP):c.3819A>G (p.Pro1273=) rs116794418 0.00637
NM_001293298.2(CEMIP):c.242-9C>T rs76392735 0.00572
NM_001293298.2(CEMIP):c.2348A>G (p.His783Arg) rs12441101 0.00559
NM_001293298.2(CEMIP):c.1231C>G (p.Leu411Val) rs144349326 0.00522
NM_001293298.2(CEMIP):c.3397G>A (p.Glu1133Lys) rs151273972 0.00239
NM_001293298.2(CEMIP):c.3625C>T (p.His1209Tyr) rs140790232 0.00160
NM_001293298.2(CEMIP):c.832C>T (p.Pro278Ser) rs138423783 0.00128
NM_001293298.2(CEMIP):c.645G>C (p.Glu215Asp) rs151251518 0.00043
NM_001293298.2(CEMIP):c.449C>T (p.Ala150Val) rs751790405 0.00003
NM_001293298.2(CEMIP):c.3311C>T (p.Thr1104Met) rs376164357 0.00001
NM_001293298.2(CEMIP):c.617G>A (p.Arg206Gln)

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