ClinVar Miner

List of variants in gene combination COL12A1, LOC126859712 reported as uncertain significance for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.7338G>T (p.Leu2446Phe) rs763858637 0.00006
NM_004370.6(COL12A1):c.7307G>A (p.Arg2436Gln) rs1315131480 0.00002
NM_004370.6(COL12A1):c.7108G>A (p.Asp2370Asn) rs764573448 0.00001
NM_004370.6(COL12A1):c.7138A>G (p.Thr2380Ala) rs756406838 0.00001
NM_004370.6(COL12A1):c.7154C>T (p.Ala2385Val) rs372896052 0.00001
NM_004370.6(COL12A1):c.7210+4T>G rs201950823 0.00001
NM_004370.6(COL12A1):c.7211-3T>C rs766034760 0.00001
NM_004370.6(COL12A1):c.7250G>T (p.Trp2417Leu) rs755614789 0.00001
NM_004370.6(COL12A1):c.7318G>A (p.Glu2440Lys) rs781647177 0.00001
NM_004370.6(COL12A1):c.7087-3C>T rs1769248501
NM_004370.6(COL12A1):c.7087-5T>G rs1410734553
NM_004370.6(COL12A1):c.7087G>A (p.Val2363Ile) rs757745237
NM_004370.6(COL12A1):c.7109A>G (p.Asp2370Gly)
NM_004370.6(COL12A1):c.7111G>C (p.Glu2371Gln)
NM_004370.6(COL12A1):c.7114G>A (p.Val2372Ile)
NM_004370.6(COL12A1):c.7139C>T (p.Thr2380Met) rs752457445
NM_004370.6(COL12A1):c.7168G>C (p.Ala2390Pro)
NM_004370.6(COL12A1):c.7175A>G (p.Gln2392Arg) rs1389027764
NM_004370.6(COL12A1):c.7184G>A (p.Arg2395Lys) rs1297625818
NM_004370.6(COL12A1):c.7191A>T (p.Arg2397Ser) rs2149366659
NM_004370.6(COL12A1):c.7201A>C (p.Thr2401Pro) rs1769243797
NM_004370.6(COL12A1):c.7202C>G (p.Thr2401Arg) rs2533202311
NM_004370.6(COL12A1):c.7210+3dup rs2533202272
NM_004370.6(COL12A1):c.7215G>C (p.Lys2405Asn) rs568748031
NM_004370.6(COL12A1):c.7216G>A (p.Ala2406Thr) rs2533200434
NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg) rs141593495
NM_004370.6(COL12A1):c.7232A>G (p.Lys2411Arg) rs2533200321
NM_004370.6(COL12A1):c.7255A>G (p.Ser2419Gly) rs2533200039
NM_004370.6(COL12A1):c.7256G>A (p.Ser2419Asn)
NM_004370.6(COL12A1):c.7258G>A (p.Gly2420Ser) rs1290886066
NM_004370.6(COL12A1):c.7264A>G (p.Arg2422Gly) rs1769229174
NM_004370.6(COL12A1):c.7269G>T (p.Lys2423Asn)
NM_004370.6(COL12A1):c.7270A>C (p.Asn2424His) rs1769228699
NM_004370.6(COL12A1):c.7282G>T (p.Val2428Leu) rs1233148302
NM_004370.6(COL12A1):c.7291G>A (p.Val2431Met)
NM_004370.6(COL12A1):c.7292T>C (p.Val2431Ala) rs1769227311
NM_004370.6(COL12A1):c.7298C>T (p.Thr2433Met) rs1769226903
NM_004370.6(COL12A1):c.7303G>A (p.Gly2435Ser) rs2149366214
NM_004370.6(COL12A1):c.7333G>A (p.Ala2445Thr) rs2533199231
NM_004370.6(COL12A1):c.7340T>C (p.Val2447Ala)

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