ClinVar Miner

List of variants in gene COL12A1 reported as uncertain significance for not provided

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Total variants: 35
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HGVS dbSNP
GRCh37/hg19 6q13(chr6:75184521-75899477)x3
NM_004370.6(COL12A1):c.1519_1525del (p.Ile507fs) rs1554187341
NM_004370.6(COL12A1):c.163T>G (p.Tyr55Asp) rs1554189322
NM_004370.6(COL12A1):c.2012G>C (p.Gly671Ala) rs1057519171
NM_004370.6(COL12A1):c.2179C>T (p.Arg727Ter) rs1064796670
NM_004370.6(COL12A1):c.2233C>T (p.Gln745Ter) rs1554186583
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala) rs1278211393
NM_004370.6(COL12A1):c.2983+5G>A rs1064794720
NM_004370.6(COL12A1):c.3325C>G (p.Pro1109Ala) rs528319887
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys) rs373637483
NM_004370.6(COL12A1):c.3550C>A (p.Pro1184Thr) rs1057524309
NM_004370.6(COL12A1):c.3767A>T (p.His1256Leu) rs199692759
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala) rs377553583
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His) rs191757914
NM_004370.6(COL12A1):c.4000+4C>G rs375772555
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys) rs574863380
NM_004370.6(COL12A1):c.4691T>C (p.Leu1564Ser) rs1554181762
NM_004370.6(COL12A1):c.4723A>G (p.Arg1575Gly) rs1490798316
NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His) rs180718181
NM_004370.6(COL12A1):c.5025G>A (p.Trp1675Ter) rs1554181078
NM_004370.6(COL12A1):c.5224C>T (p.Arg1742Cys) rs530680231
NM_004370.6(COL12A1):c.5321A>G (p.Asp1774Gly) rs1064796779
NM_004370.6(COL12A1):c.5381G>A (p.Gly1794Asp)
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396
NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys) rs372985511
NM_004370.6(COL12A1):c.7676C>T (p.Ala2559Val) rs761234963
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277
NM_004370.6(COL12A1):c.8059A>T (p.Ile2687Phe) rs1391973492
NM_004370.6(COL12A1):c.8081G>T (p.Gly2694Val) rs1131691271
NM_004370.6(COL12A1):c.8459C>T (p.Pro2820Leu) rs1554168325
NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu) rs369360559
NM_004370.6(COL12A1):c.8605G>A (p.Gly2869Arg) rs1554167424
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761
NM_004370.6(COL12A1):c.9134A>T (p.Asp3045Val) rs751471471
NM_004370.6(COL12A1):c.997G>A (p.Val333Ile) rs1426761655

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