ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Total variants: 20
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HGVS dbSNP
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000093.4(COL5A1):c.2374C>T (p.Arg792Ter) rs121912933
NM_000093.4(COL5A1):c.2701-25T>G rs765079080
NM_000093.4(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_000093.4(COL5A1):c.3259_3366del (p.Ser1088_Gly1123del)
NM_000093.4(COL5A1):c.3752del (p.Pro1251Argfs) rs786205100
NM_000093.4(COL5A1):c.3906+3G>T rs786200922
NM_000093.4(COL5A1):c.4339-1delG rs786205102
NM_000093.4(COL5A1):c.4466G>A (p.Gly1489Glu) rs121912932
NM_000093.4(COL5A1):c.4916G>C (p.Cys1639Ser) rs80338764
NM_000093.4(COL5A1):c.5137-11T>A rs183495554
NM_000093.4(COL5A1):c.5370+3_5370+6delGAGT rs786200923
NM_000093.4(COL5A1):c.655-2A>G rs786205101
NM_000393.4(COL5A2):c.1617+4A>G rs1553515517
NM_000393.4(COL5A2):c.1924-2_1928del rs786205103
NM_000393.4(COL5A2):c.2031+1G>T rs786205104
NM_000393.4(COL5A2):c.2553+2del rs1553514506
NM_000393.4(COL5A2):c.3148-2A>G rs1553513971
NM_000393.4(COL5A2):c.3445G>C (p.Gly1149Arg) rs121912930
NM_000393.4(COL5A2):c.4298del (p.Ile1433Thrfs) rs1553512393

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