ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.1066C>T (p.Arg356Ter)
NM_000393.5(COL5A2):c.1105G>A (p.Gly369Ser)
NM_000393.5(COL5A2):c.1159-60_2031+62dup
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=) rs1553515794
NM_000393.5(COL5A2):c.1402-2A>G
NM_000393.5(COL5A2):c.1617+4A>G rs1553515517
NM_000393.5(COL5A2):c.1924-2_1928del rs786205103
NM_000393.5(COL5A2):c.1924-4C>G rs1559085578
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.2031+1G>T rs786205104
NM_000393.5(COL5A2):c.2137C>T (p.Arg713Ter)
NM_000393.5(COL5A2):c.2553+2del rs1553514506
NM_000393.5(COL5A2):c.2769+2dup
NM_000393.5(COL5A2):c.2919dup (p.Asp974fs) rs1685782021
NM_000393.5(COL5A2):c.3147+1G>A rs1685734160
NM_000393.5(COL5A2):c.3148-2A>G rs1553513971
NM_000393.5(COL5A2):c.3201+1G>T
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000393.5(COL5A2):c.3406C>T (p.Arg1136Ter)
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg) rs121912930
NM_000393.5(COL5A2):c.386del (p.Gly129fs) rs2105686874
NM_000393.5(COL5A2):c.387del (p.Arg130fs) rs2105686869
NM_000393.5(COL5A2):c.3933C>G (p.Tyr1311Ter)
NM_000393.5(COL5A2):c.4298del (p.Ile1433fs) rs1553512393
NM_000393.5(COL5A2):c.690+5G>T rs1576517517
NM_000393.5(COL5A2):c.971G>A (p.Gly324Asp) rs2105632746

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