ClinVar Miner

List of variants in gene COL12A1 studied for Ullrich congenital muscular dystrophy 2

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=) rs594012 0.87913
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser) rs970547 0.72620
NM_004370.6(COL12A1):c.7086+44C>G rs499018 0.64589
NM_004370.6(COL12A1):c.5395-29G>A rs1332020 0.42606
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr) rs240736 0.29412
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr) rs202175607 0.00003
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277 0.00003
NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp) rs757075255 0.00002
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter) rs1304140510 0.00001
NM_004370.6(COL12A1):c.5888A>G (p.Gln1963Arg) rs1766321428 0.00001
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu) rs775646975 0.00001
NM_004370.6(COL12A1):c.1232C>A (p.Thr411Lys) rs2149467046
NM_004370.6(COL12A1):c.1488dup (p.Phe497fs) rs1582196903
NM_004370.6(COL12A1):c.1892-19dup rs11347601
NM_004370.6(COL12A1):c.2252T>G (p.Leu751Ter)
NM_004370.6(COL12A1):c.4602C>T (p.Asp1534=) rs1767127938
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly) rs762021815
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_004370.6(COL12A1):c.6061C>T (p.Arg2021Ter)
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093
NM_004370.6(COL12A1):c.756dup (p.Ser253fs) rs1582208315
NM_004370.6(COL12A1):c.7840+1G>A rs875989819
NM_004370.6(COL12A1):c.8319+1G>T
NM_004370.6(COL12A1):c.8464C>T (p.Arg2822Ter) rs984314526
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)

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