ClinVar Miner

List of variants in gene COL1A2 reported by OMIM

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_000089.4(COL1A2):c.1404+1G>A rs67162110 0.00001
COL1A2, EX26DEL
COL1A2, EX6DEL
COL1A2, GLY976ASP
NC_000007.13:g.94035075_94047591dup
NM_000089.4(COL1A2):c.1035_1035+2del rs869254878
NM_000089.4(COL1A2):c.1099G>T (p.Gly367Trp) rs72656402
NM_000089.4(COL1A2):c.1136G>C (p.Gly379Ala) rs121912912
NM_000089.4(COL1A2):c.1197+5G>A rs68132885
NM_000089.4(COL1A2):c.1262G>A (p.Gly421Asp) rs267606741
NM_000089.4(COL1A2):c.1404+1G>C rs67162110
NM_000089.4(COL1A2):c.1414G>T (p.Gly472Cys) rs121912906
NM_000089.4(COL1A2):c.1504G>A (p.Gly502Ser) rs121912910
NM_000089.4(COL1A2):c.1557+3A>G rs72658127
NM_000089.4(COL1A2):c.1612-2A>G rs1799871
NM_000089.4(COL1A2):c.1640G>A (p.Gly547Asp) rs121912901
NM_000089.4(COL1A2):c.1739G>A (p.Gly580Asp) rs121912909
NM_000089.4(COL1A2):c.1757G>T (p.Gly586Val) rs121912907
NM_000089.4(COL1A2):c.1936G>T (p.Gly646Cys) rs121912903
NM_000089.4(COL1A2):c.1973_2025+1del rs2115924259
NM_000089.4(COL1A2):c.1981G>A (p.Gly661Ser) rs72658152
NM_000089.4(COL1A2):c.2025+334_2565+183del
NM_000089.4(COL1A2):c.2025+5G>A rs72658157
NM_000089.4(COL1A2):c.2080G>C (p.Gly694Arg) rs121912908
NM_000089.4(COL1A2):c.2251G>A (p.Gly751Ser) rs72658176
NM_000089.4(COL1A2):c.226-1G>C rs66820119
NM_000089.4(COL1A2):c.226-2A>G rs72656355
NM_000089.4(COL1A2):c.2414G>A (p.Gly805Asp) rs121912904
NM_000089.4(COL1A2):c.2575G>A (p.Gly859Ser) rs72658200
NM_000089.4(COL1A2):c.2593G>A (p.Gly865Ser) rs121912902
NM_000089.4(COL1A2):c.2720G>A (p.Gly907Asp) rs121912900
NM_000089.4(COL1A2):c.279+1G>A rs67398234
NM_000089.4(COL1A2):c.279+2T>C rs72656357
NM_000089.4(COL1A2):c.279G>A (p.Met93Ile) rs72656356
NM_000089.4(COL1A2):c.293dup (p.Pro98_Arg99insTer) rs797044459
NM_000089.4(COL1A2):c.3017G>C (p.Gly1006Ala) rs121912911
NM_000089.4(COL1A2):c.3034G>C (p.Gly1012Arg) rs72659319
NM_000089.4(COL1A2):c.3105+2T>C rs72659324
NM_000089.4(COL1A2):c.324+4del rs1791756559
NM_000089.4(COL1A2):c.3269G>A (p.Gly1090Asp) rs267606742
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp) rs1114167416
NM_000089.4(COL1A2):c.3279_3287del (p.1091PPG[3]) rs74315103
NM_000089.4(COL1A2):c.3295G>A (p.Gly1099Arg) rs72659338
NM_000089.4(COL1A2):c.3601G>T (p.Glu1201Ter) rs72659343
NM_000089.4(COL1A2):c.4001_4004del (p.Asn1334fs) rs72659345
NM_000089.4(COL1A2):c.432+3_432+13del rs72656362
NM_000089.4(COL1A2):c.432+5G>A rs72656364
NM_000089.4(COL1A2):c.487-4_501del rs74315146
NM_000089.4(COL1A2):c.540+5G>A rs72656367
NM_000089.4(COL1A2):c.70+717A>G rs72656354
NM_000089.4(COL1A2):c.775G>T (p.Gly259Cys) rs121912905

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