ClinVar Miner

List of variants reported as likely pathogenic for osteogenesis imperfecta type 2

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.2380C>T (p.Arg794Trp) rs759251034 0.00003
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser) rs749621872 0.00002
NM_000089.4(COL1A2):c.2957C>T (p.Pro986Leu) rs768171831 0.00001
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser) rs72656392 0.00001
NM_000088.4(COL1A1):c.1004G>A (p.Gly335Asp) rs1907549643
NM_000088.4(COL1A1):c.1004G>T (p.Gly335Val)
NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val) rs66494876
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter) rs2144576822
NM_000088.4(COL1A1):c.1200+1del rs2144576696
NM_000088.4(COL1A1):c.1292G>T (p.Gly431Val) rs72648332
NM_000088.4(COL1A1):c.1327G>A (p.Gly443Arg)
NM_000088.4(COL1A1):c.1399G>A (p.Gly467Arg) rs2144573313
NM_000088.4(COL1A1):c.1742G>A (p.Gly581Glu)
NM_000088.4(COL1A1):c.1777G>T (p.Gly593Cys) rs66527965
NM_000088.4(COL1A1):c.1787_1798del (p.Gly596_Gly599del)
NM_000088.4(COL1A1):c.1867G>A (p.Gly623Ser) rs2144564489
NM_000088.4(COL1A1):c.2056G>A (p.Gly686Ser) rs1404470949
NM_000088.4(COL1A1):c.2074G>A (p.Gly692Ser) rs1907108266
NM_000088.4(COL1A1):c.2192G>A (p.Gly731Asp)
NM_000088.4(COL1A1):c.2336G>T (p.Gly779Val) rs2144556146
NM_000088.4(COL1A1):c.2876G>T (p.Gly959Val)
NM_000088.4(COL1A1):c.3092G>A (p.Gly1031Asp)
NM_000088.4(COL1A1):c.3207+1_3207+2del rs1064796200
NM_000088.4(COL1A1):c.3261+1G>A rs2144543339
NM_000088.4(COL1A1):c.3263del
NM_000088.4(COL1A1):c.3434G>T (p.Gly1145Val)
NM_000088.4(COL1A1):c.4201G>T (p.Glu1401Ter)
NM_000088.4(COL1A1):c.635G>A (p.Gly212Glu)
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg) rs72645355
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg) rs1584320605
NM_000089.4(COL1A2):c.1343G>A (p.Gly448Glu) rs72658116
NM_000089.4(COL1A2):c.1531G>T (p.Gly511Cys)
NM_000089.4(COL1A2):c.1630G>T (p.Gly544Cys) rs72658134
NM_000089.4(COL1A2):c.1640G>T (p.Gly547Val)
NM_000089.4(COL1A2):c.1865G>T (p.Gly622Val) rs2115921279
NM_000089.4(COL1A2):c.1972-1G>T rs2115924241
NM_000089.4(COL1A2):c.2025+6T>C
NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser) rs1584325552
NM_000089.4(COL1A2):c.2288G>A (p.Gly763Asp) rs72658179
NM_000089.4(COL1A2):c.242A>G (p.Tyr81Cys)
NM_000089.4(COL1A2):c.2512G>A (p.Gly838Ser) rs1057516036
NM_000089.4(COL1A2):c.2673G>A (p.Val891=) rs1114167364
NM_000089.4(COL1A2):c.2710G>C (p.Gly904Arg)
NM_000089.4(COL1A2):c.2711G>A (p.Gly904Glu) rs775246283
NM_000089.4(COL1A2):c.279+3A>C rs762201938
NM_000089.4(COL1A2):c.2935G>C (p.Gly979Arg) rs2115952631
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.3133G>A (p.Gly1045Ser)
NM_000089.4(COL1A2):c.3134G>A (p.Gly1045Asp) rs2115957148
NM_000089.4(COL1A2):c.3159+1G>A
NM_000089.4(COL1A2):c.326G>T (p.Gly109Val) rs1114167416
NM_000089.4(COL1A2):c.432+2T>A rs2115876295
NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp) rs1554395833
NM_000089.4(COL1A2):c.614G>A (p.Gly205Asp)
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val) rs67525025

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