ClinVar Miner

List of variants studied for Hypoproteinemia, hypercatabolic by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_004048.4(B2M):c.67+19C>T rs185185288 0.00091
NM_004048.4(B2M):c.68-13C>T rs149900092 0.00032
NM_004048.4(B2M):c.159C>T (p.Ser53=) rs200164063 0.00016
NM_004048.4(B2M):c.340A>C (p.Lys114Gln) rs372078625 0.00011
NM_004048.4(B2M):c.279T>C (p.Thr93=) rs766309912 0.00005
NM_004048.4(B2M):c.68-12G>A rs375970981 0.00003
NM_004048.4(B2M):c.278C>A (p.Thr93Asn) rs778103494 0.00002
NM_004048.4(B2M):c.160G>A (p.Asp54Asn) rs148494241 0.00001
NM_004048.4(B2M):c.168A>G (p.Glu56=) rs1347307081 0.00001
NM_004048.4(B2M):c.33G>C (p.Ala11=) rs781314311 0.00001
NM_004048.4(B2M):c.50G>A (p.Gly17Asp) rs1196771735 0.00001
NM_004048.4(B2M):c.5C>T (p.Ser2Phe) rs368160918 0.00001
NM_004048.4(B2M):c.67+12C>T rs771780544 0.00001
NC_000015.9:g.(?_45007601)_(45008540_?)dup
NM_004048.4(B2M):c.106G>A (p.Glu36Lys) rs1204151497
NM_004048.4(B2M):c.114A>G (p.Gly38=)
NM_004048.4(B2M):c.126C>T (p.Phe42=)
NM_004048.4(B2M):c.135C>G (p.Cys45Trp)
NM_004048.4(B2M):c.147G>A (p.Gly49=)
NM_004048.4(B2M):c.147G>T (p.Gly49=) rs768464174
NM_004048.4(B2M):c.154_155delinsTT (p.Pro52Leu) rs2141288680
NM_004048.4(B2M):c.156A>C (p.Pro52=)
NM_004048.4(B2M):c.20T>A (p.Leu7Ter)
NM_004048.4(B2M):c.245T>C (p.Phe82Ser)
NM_004048.4(B2M):c.24T>C (p.Ala8=)
NM_004048.4(B2M):c.278C>T (p.Thr93Ile)
NM_004048.4(B2M):c.27G>A (p.Val9=)
NM_004048.4(B2M):c.300C>T (p.Cys100=)
NM_004048.4(B2M):c.301C>T (p.Arg101Cys)
NM_004048.4(B2M):c.306G>A (p.Val102=)
NM_004048.4(B2M):c.312T>C (p.His104=)
NM_004048.4(B2M):c.313G>A (p.Val105Met) rs2086933060
NM_004048.4(B2M):c.31G>C (p.Ala11Pro) rs104894481
NM_004048.4(B2M):c.347-15C>T
NM_004048.4(B2M):c.347-4A>G rs2086941192
NM_004048.4(B2M):c.355A>G (p.Met119Val)
NM_004048.4(B2M):c.358T>C (p.Ter120Gln)
NM_004048.4(B2M):c.52C>G (p.Leu18Val)
NM_004048.4(B2M):c.61A>G (p.Ile21Val) rs757230673
NM_004048.4(B2M):c.67+20C>A
NM_004048.4(B2M):c.67+20C>T
NM_004048.4(B2M):c.68-10T>C rs2141288465
NM_004048.4(B2M):c.7C>T (p.Arg3Cys) rs765817584
NM_004048.4(B2M):c.85G>T (p.Val29Phe) rs1304731273
NM_004048.4(B2M):c.8G>A (p.Arg3His)
NM_004048.4(B2M):c.94C>T (p.Arg32Cys)

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