ClinVar Miner

List of variants in gene COL5A2 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
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Total variants: 49
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HGVS dbSNP
NM_000393.4(COL5A2):c.-176T>A rs570350400
NM_000393.5(COL5A2):c.*126A>G rs755412373
NM_000393.5(COL5A2):c.*1460A>T rs886055349
NM_000393.5(COL5A2):c.*1465G>T rs886055348
NM_000393.5(COL5A2):c.*1668C>G rs772852972
NM_000393.5(COL5A2):c.*1764G>T rs554165132
NM_000393.5(COL5A2):c.*1894C>A rs886055347
NM_000393.5(COL5A2):c.*1961T>C rs886055346
NM_000393.5(COL5A2):c.*1970T>G rs548360577
NM_000393.5(COL5A2):c.*211T>A rs776264833
NM_000393.5(COL5A2):c.*401A>C rs886055352
NM_000393.5(COL5A2):c.*590dup rs200554257
NM_000393.5(COL5A2):c.*694_*695TA[1] rs886055351
NM_000393.5(COL5A2):c.*716A>G rs886055350
NM_000393.5(COL5A2):c.*848T>C rs72902303
NM_000393.5(COL5A2):c.*904A>C rs778818824
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736
NM_000393.5(COL5A2):c.1350A>G (p.Gly450=) rs886055357
NM_000393.5(COL5A2):c.1923+8T>C rs191193125
NM_000393.5(COL5A2):c.2468T>C (p.Leu823Ser) rs372904150
NM_000393.5(COL5A2):c.2499+10A>G rs886055356
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) rs370774253
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858
NM_000393.5(COL5A2):c.3040-8T>C rs886055355
NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser) rs773168254
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843
NM_000393.5(COL5A2):c.3201+14C>T rs368713290
NM_000393.5(COL5A2):c.322+8T>C rs372227642
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln) rs377049803
NM_000393.5(COL5A2):c.3363+2T>C rs1559076442
NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys) rs886055354
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552
NM_000393.5(COL5A2):c.3633+12A>G rs886055353
NM_000393.5(COL5A2):c.3633+14G>T rs776087725
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu) rs753383064
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397
NM_000393.5(COL5A2):c.403-3T>C rs369733690
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile) rs762653511
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000393.5(COL5A2):c.532C>T (p.His178Tyr) rs886055358
NM_000393.5(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.744+7G>A rs774993105
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.5(COL5A2):c.799-7C>A rs879227018
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303
NM_000393.5(COL5A2):c.906+10A>T rs776578452

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