ClinVar Miner

List of variants in gene COL1A1 reported by Genetics Department, Polish Mother's Memorial Hospital Research Institute

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NC_000017.11:g.(?_50193945)_(50201396_?)del
NC_000017.11:g.50198206del rs1907770102
NM_000088.4(COL1A1):c.1001del (p.Pro334fs) rs150572711
NM_000088.4(COL1A1):c.1002+5G>T rs1907566530
NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala) rs1555574151
NM_000088.4(COL1A1):c.1112G>C (p.Gly371Ala) rs1907512918
NM_000088.4(COL1A1):c.1247G>T (p.Gly416Val) rs1135401953
NM_000088.4(COL1A1):c.1281del (p.Gly428fs) rs1907477506
NM_000088.4(COL1A1):c.1492del (p.Ala498fs) rs1598295794
NM_000088.4(COL1A1):c.1516-1G>C rs72648352
NM_000088.4(COL1A1):c.1646del (p.Pro549fs) rs1907351704
NM_000088.4(COL1A1):c.1821+1G>C rs66555264
NM_000088.4(COL1A1):c.1843G>T (p.Glu615Ter) rs1598293920
NM_000088.4(COL1A1):c.2102del (p.Gly701fs) rs1907103040
NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser) rs1598290382
NM_000088.4(COL1A1):c.2569G>T (p.Gly857Cys) rs72653141
NM_000088.4(COL1A1):c.2667+1G>C rs72653150
NM_000088.4(COL1A1):c.2984G>C (p.Gly995Ala) rs1598288656
NM_000088.4(COL1A1):c.2993G>C (p.Gly998Ala) rs1598288634
NM_000088.4(COL1A1):c.3099+1G>A rs1555572316
NM_000088.4(COL1A1):c.3182G>C (p.Gly1061Ala) rs72654797
NM_000088.4(COL1A1):c.3182G>T (p.Gly1061Val)
NM_000088.4(COL1A1):c.3370-1G>C rs112042777
NM_000088.4(COL1A1):c.3421del (p.Arg1141fs) rs1598286543
NM_000088.4(COL1A1):c.4081G>A (p.Glu1361Lys) rs141011435
NM_000088.4(COL1A1):c.4171C>T (p.Gln1391Ter) rs2586486
NM_000088.4(COL1A1):c.4248+1G>A rs111953130
NM_000088.4(COL1A1):c.617G>T (p.Gly206Val) rs1598300054
NM_000088.4(COL1A1):c.992C>T (p.Ala331Val) rs762653813

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