ClinVar Miner

List of variants in gene COL1A2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 39
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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.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000089.4(COL1A2):c.2566-6A>G rs141088934 0.00012
NM_000089.4(COL1A2):c.2905G>A (p.Val969Met) rs765448220 0.00011
NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu) rs149858889 0.00007
NM_000089.4(COL1A2):c.2642A>C (p.Glu881Ala) rs751201659 0.00006
NM_000089.4(COL1A2):c.2843G>A (p.Arg948His) rs201168934 0.00006
NM_000089.4(COL1A2):c.3368G>T (p.Arg1123Leu) rs145541630 0.00006
NM_000089.4(COL1A2):c.1268G>A (p.Arg423His) rs764780528 0.00005
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu) rs370234887 0.00005
NM_000089.4(COL1A2):c.2330G>A (p.Arg777His) rs746187799 0.00002
NM_000089.4(COL1A2):c.4012C>T (p.Arg1338Cys) rs781721538 0.00002
NM_000089.4(COL1A2):c.1522G>A (p.Gly508Ser) rs769600024 0.00001
NM_000089.4(COL1A2):c.2041G>A (p.Val681Ile) rs781026808 0.00001
NM_000089.4(COL1A2):c.2136T>C (p.Gly712=) rs1228519738 0.00001
NM_000089.4(COL1A2):c.2797G>A (p.Asp933Asn) rs779358259 0.00001
NM_000089.4(COL1A2):c.2815G>A (p.Asp939Asn) rs776169837 0.00001
NM_000089.4(COL1A2):c.891+7A>T rs1017077909 0.00001
NM_000089.4(COL1A2):c.125G>A (p.Gly42Glu)
NM_000089.4(COL1A2):c.1265G>T (p.Ser422Ile) rs1554396329
NM_000089.4(COL1A2):c.1430C>T (p.Pro477Leu)
NM_000089.4(COL1A2):c.1925C>T (p.Pro642Leu) rs1064797338
NM_000089.4(COL1A2):c.1966G>A (p.Glu656Lys) rs794727557
NM_000089.4(COL1A2):c.211C>T (p.Pro71Ser)
NM_000089.4(COL1A2):c.2168A>T (p.Asn723Ile) rs189374343
NM_000089.4(COL1A2):c.226-11T>A rs2115865122
NM_000089.4(COL1A2):c.2321C>T (p.Ala774Val) rs1584326663
NM_000089.4(COL1A2):c.2426C>A (p.Pro809His)
NM_000089.4(COL1A2):c.266G>A (p.Gly89Asp)
NM_000089.4(COL1A2):c.3273C>T (p.Pro1091=) rs563540756
NM_000089.4(COL1A2):c.3430A>C (p.Asn1144His) rs374282276
NM_000089.4(COL1A2):c.3527-4A>T rs888826541
NM_000089.4(COL1A2):c.3704G>A (p.Gly1235Asp) rs1792333626
NM_000089.4(COL1A2):c.452G>C (p.Gly151Ala)
NM_000089.4(COL1A2):c.540+8C>T rs1064797337
NM_000089.4(COL1A2):c.682C>T (p.Pro228Ser) rs1791843469
NM_000089.4(COL1A2):c.917C>T (p.Thr306Ile) rs1562900943

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