ClinVar Miner

List of variants in gene COL9A3 studied for bone development disease

Included ClinVar conditions (618):
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001853.4(COL9A3):c.1740T>C (p.Pro580=) rs2294995 0.75903
NM_001853.4(COL9A3):c.1008+10C>T rs6062700 0.56099
NM_001853.4(COL9A3):c.1288-5T>C rs741758 0.38028
NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu) rs751557 0.25404
NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu) rs2294984 0.12823
NM_001853.4(COL9A3):c.909G>A (p.Pro303=) rs2249903 0.12661
NM_001853.4(COL9A3):c.93C>A (p.Pro31=) rs2273078 0.11502
NM_001853.4(COL9A3):c.520-6C>T rs45476191 0.00844
NM_001853.4(COL9A3):c.309+11G>A rs146033082 0.00541
NM_001853.4(COL9A3):c.2010C>T (p.Ala670=) rs34911725 0.00408
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) rs139401633 0.00096
NM_001853.4(COL9A3):c.1918G>A (p.Glu640Lys) rs553583384 0.00089
NM_001853.4(COL9A3):c.346-19C>T rs199940406 0.00029
NM_001853.4(COL9A3):c.1987G>A (p.Asp663Asn) rs149805455 0.00010
NM_001853.4(COL9A3):c.1906G>A (p.Gly636Ser) rs34990115 0.00006
NM_001853.4(COL9A3):c.753C>G (p.Phe251Leu) rs376779544 0.00006
NM_001853.4(COL9A3):c.218C>T (p.Pro73Leu) rs768298010 0.00004
NM_001853.4(COL9A3):c.1747C>T (p.Arg583Cys) rs778892188 0.00002
NM_001853.4(COL9A3):c.268C>T (p.Arg90Ter) rs763259234 0.00002
NM_001853.4(COL9A3):c.577-20G>A rs928285792 0.00002
NM_001853.4(COL9A3):c.505G>A (p.Ala169Thr) rs948698664 0.00001
NM_001853.4(COL9A3):c.920G>A (p.Gly307Asp) rs1422176468 0.00001
NM_001853.4(COL9A3):c.107_116del (p.Pro36fs) rs1470627424
NM_001853.4(COL9A3):c.1176_1198del (p.Gln393fs) rs606231470
NM_001853.4(COL9A3):c.1204C>T (p.Arg402Ter)
NM_001853.4(COL9A3):c.1249C>G (p.Pro417Ala) rs1555824129
NM_001853.4(COL9A3):c.148-2A>T rs1600786629
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter) rs1201247953
NM_001853.4(COL9A3):c.1775C>T (p.Pro592Leu) rs1432126169
NM_001853.4(COL9A3):c.183+2T>C rs2147195552
NM_001853.4(COL9A3):c.183+4A>C rs1555821817
NM_001853.4(COL9A3):c.183+5G>A rs1600786748
NM_001853.4(COL9A3):c.184-2A>G rs1991037713
NM_001853.4(COL9A3):c.2034_2037dup (p.Gly680fs) rs1190301717
NM_001853.4(COL9A3):c.355del (p.Leu119fs)
NM_001853.4(COL9A3):c.369+2T>C rs1057518693
NM_001853.4(COL9A3):c.397G>A (p.Gly133Ser) rs2063514944
NM_001853.4(COL9A3):c.433G>T (p.Gly145Ter)
NM_001853.4(COL9A3):c.647dup (p.Gly217fs) rs2147208658
NM_001853.4(COL9A3):c.700C>T (p.Arg234Ter) rs1027769042
NM_001853.4(COL9A3):c.792+19G>A rs115466848

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