ClinVar Miner

List of variants in gene COL5A2 reported as likely benign for Ehlers-Danlos syndrome, classic type

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Total variants: 46
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HGVS dbSNP
NM_000393.3(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.3(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.3(COL5A2):c.3407G>A (p.Arg1136Gln) rs562950263
NM_000393.3(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.3(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.4(COL5A2):c.1005+10C>T rs767297800
NM_000393.4(COL5A2):c.1059+9A>G rs776100559
NM_000393.4(COL5A2):c.117A>T (p.Ile39=) rs1060504379
NM_000393.4(COL5A2):c.1182G>A (p.Ala394=) rs148229627
NM_000393.4(COL5A2):c.1261G>A (p.Ala421Thr) rs200839338
NM_000393.4(COL5A2):c.1455+6G>T rs113512079
NM_000393.4(COL5A2):c.1542T>C (p.Pro514=) rs770622592
NM_000393.4(COL5A2):c.1923+8T>C rs191193125
NM_000393.4(COL5A2):c.228C>T (p.Cys76=) rs564136480
NM_000393.4(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.4(COL5A2):c.2334C>T (p.Asp778=) rs138457003
NM_000393.4(COL5A2):c.2337+8C>T rs999144463
NM_000393.4(COL5A2):c.2338-6T>C rs375291199
NM_000393.4(COL5A2):c.2424G>A (p.Pro808=) rs200019093
NM_000393.4(COL5A2):c.2544C>T (p.Ala848=) rs370774253
NM_000393.4(COL5A2):c.2554-14A>G rs142429770
NM_000393.4(COL5A2):c.2554-5T>C rs373495598
NM_000393.4(COL5A2):c.2770-6T>C rs770409954
NM_000393.4(COL5A2):c.288T>C (p.Cys96=) rs577308799
NM_000393.4(COL5A2):c.2895A>G (p.Pro965=) rs760946138
NM_000393.4(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853
NM_000393.4(COL5A2):c.2964G>A (p.Thr988=) rs1060504380
NM_000393.4(COL5A2):c.3178C>A (p.Arg1060=) rs374549843
NM_000393.4(COL5A2):c.322+8T>C rs372227642
NM_000393.4(COL5A2):c.3222G>A (p.Gly1074=) rs149574060
NM_000393.4(COL5A2):c.3513A>G (p.Pro1171=) rs754108091
NM_000393.4(COL5A2):c.370-16C>T rs148220961
NM_000393.4(COL5A2):c.3728G>A (p.Ser1243Asn) rs140851866
NM_000393.4(COL5A2):c.3837T>C (p.Ile1279=) rs148795690
NM_000393.4(COL5A2):c.3969A>C (p.Ala1323=) rs1131429
NM_000393.4(COL5A2):c.3975A>G (p.Lys1325=) rs775697182
NM_000393.4(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616
NM_000393.4(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954
NM_000393.4(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000393.4(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751
NM_000393.4(COL5A2):c.4443T>C (p.Asp1481=) rs142857608
NM_000393.4(COL5A2):c.4470C>T (p.Gly1490=) rs142895373
NM_000393.4(COL5A2):c.519A>C (p.Pro173=) rs1553517803
NM_000393.4(COL5A2):c.567+7T>C rs755666206
NM_000393.4(COL5A2):c.570G>A (p.Pro190=) rs139666335
NM_000393.4(COL5A2):c.870T>C (p.Pro290=) rs139656817

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