ClinVar Miner

List of variants in gene COL12A1, LOC126859712 studied for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.7140G>A (p.Thr2380=) rs200230227 0.00071
NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met) rs141593495 0.00054
NM_004370.6(COL12A1):c.7354+10T>A rs199945254 0.00017
NM_004370.6(COL12A1):c.7302C>T (p.Asp2434=) rs372068116 0.00009
NM_004370.6(COL12A1):c.7215G>A (p.Lys2405=) rs568748031 0.00006
NM_004370.6(COL12A1):c.7338G>T (p.Leu2446Phe) rs763858637 0.00006
NM_004370.6(COL12A1):c.7257C>T (p.Ser2419=) rs554342070 0.00005
NM_004370.6(COL12A1):c.7331C>T (p.Ala2444Val) rs367980407 0.00005
NM_004370.6(COL12A1):c.7107C>T (p.Ser2369=) rs754178898 0.00004
NM_004370.6(COL12A1):c.7087-14A>G rs779399089 0.00002
NM_004370.6(COL12A1):c.7131G>A (p.Lys2377=) rs1344927209 0.00002
NM_004370.6(COL12A1):c.7307G>A (p.Arg2436Gln) rs1315131480 0.00002
NM_004370.6(COL12A1):c.7152G>A (p.Lys2384=) rs1227090004 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.7210+9A>G rs369099620 0.00001
NM_004370.6(COL12A1):c.7211-3T>C rs766034760 0.00001
NM_004370.6(COL12A1):c.7224G>A (p.Thr2408=) rs368333381 0.00001
NM_004370.6(COL12A1):c.7250G>T (p.Trp2417Leu) rs755614789 0.00001
NM_004370.6(COL12A1):c.7269G>A (p.Lys2423=) rs776372586 0.00001
NM_004370.6(COL12A1):c.7318G>A (p.Glu2440Lys) rs781647177 0.00001
NM_004370.6(COL12A1):c.7087-11T>A rs2149366872
NM_004370.6(COL12A1):c.7087-16del
NM_004370.6(COL12A1):c.7087-20C>T
NM_004370.6(COL12A1):c.7087-3C>T rs1769248501
NM_004370.6(COL12A1):c.7087-5T>G rs1410734553
NM_004370.6(COL12A1):c.7087-6C>T
NM_004370.6(COL12A1):c.7087-8T>C
NM_004370.6(COL12A1):c.7087G>A (p.Val2363Ile)
NM_004370.6(COL12A1):c.7137C>T (p.Asn2379=) rs2149366781
NM_004370.6(COL12A1):c.7138A>G (p.Thr2380Ala)
NM_004370.6(COL12A1):c.7139C>T (p.Thr2380Met)
NM_004370.6(COL12A1):c.7143C>T (p.Tyr2381=) rs2149366759
NM_004370.6(COL12A1):c.7146T>C (p.Asn2382=) rs2149366746
NM_004370.6(COL12A1):c.7161C>A (p.Ala2387=) rs2149366727
NM_004370.6(COL12A1):c.7175A>G (p.Gln2392Arg)
NM_004370.6(COL12A1):c.7184G>A (p.Arg2395Lys)
NM_004370.6(COL12A1):c.7189A>C (p.Arg2397=)
NM_004370.6(COL12A1):c.7191A>T (p.Arg2397Ser) rs2149366659
NM_004370.6(COL12A1):c.7200C>T (p.Asn2400=)
NM_004370.6(COL12A1):c.7201A>C (p.Thr2401Pro) rs1769243797
NM_004370.6(COL12A1):c.7202C>G (p.Thr2401Arg)
NM_004370.6(COL12A1):c.7210+19C>G rs747884107
NM_004370.6(COL12A1):c.7210+3dup
NM_004370.6(COL12A1):c.7210+7G>A
NM_004370.6(COL12A1):c.7211-11A>G
NM_004370.6(COL12A1):c.7211-16A>G
NM_004370.6(COL12A1):c.7211-19T>C
NM_004370.6(COL12A1):c.7215G>C (p.Lys2405Asn) rs568748031
NM_004370.6(COL12A1):c.7216G>A (p.Ala2406Thr)
NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg) rs141593495
NM_004370.6(COL12A1):c.7230C>T (p.Ile2410=) rs2149366384
NM_004370.6(COL12A1):c.7232A>G (p.Lys2411Arg)
NM_004370.6(COL12A1):c.7255A>G (p.Ser2419Gly)
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.7270A>C (p.Asn2424His) rs1769228699
NM_004370.6(COL12A1):c.7272T>C (p.Asn2424=)
NM_004370.6(COL12A1):c.7282G>T (p.Val2428Leu)
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.7299G>A (p.Thr2433=) rs35551395
NM_004370.6(COL12A1):c.7299G>T (p.Thr2433=) rs35551395
NM_004370.6(COL12A1):c.7303G>A (p.Gly2435Ser) rs2149366214
NM_004370.6(COL12A1):c.7317T>C (p.Asp2439=) rs2149366203
NM_004370.6(COL12A1):c.7326G>A (p.Lys2442=)
NM_004370.6(COL12A1):c.7333G>A (p.Ala2445Thr)
NM_004370.6(COL12A1):c.7344C>T (p.Ile2448=)
NM_004370.6(COL12A1):c.7348C>T (p.Gln2450Ter)

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