ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, classic type by Mendelics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524 0.80779
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954 0.00075
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met) rs764446683 0.00006
NC_000009.12:g.134824601del rs1588597744
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser) rs1584325552
NM_000089.4(COL1A2):c.2810G>A (p.Gly937Asp) rs1584329740
NM_000089.4(COL1A2):c.776G>T (p.Gly259Val) rs1584318648
NM_000089.4(COL1A2):c.809_820del (p.Val270_Ala273del) rs1584318956
NM_000089.4(COL1A2):c.857_875del (p.Gly286fs) rs1584319045
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys) rs1835194794
NM_000093.5(COL5A1):c.2953-1G>A rs866122374
NM_000093.5(COL5A1):c.3054del (p.Pro1020fs) rs2132822152
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000393.5(COL5A2):c.4163C>A (p.Thr1388Asn) rs771415085

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