ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome type 7B

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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COL1A2, IVS6DS, G-A, -1
NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.3(COL1A1):c.1299+1G>A rs66490707
NM_000088.3(COL1A1):c.1821+1G>A rs66555264
NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642
NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170
NM_000088.3(COL1A1):c.472-1G>A rs72667020
NM_000088.3(COL1A1):c.472-2A>T rs72667019
NM_000088.3(COL1A1):c.543G>A (p.Met181Ile) rs72667022
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) rs72645357
NM_000089.3(COL1A2):c.1127G>T (p.Gly376Val) rs67543427
NM_000089.3(COL1A2):c.226-1G>C rs66820119
NM_000089.3(COL1A2):c.226-2A>G rs72656355
NM_000089.3(COL1A2):c.279+2T>C rs72656357
NM_000089.3(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser) rs66612022
NM_000477.5(ALB):c.71G>A (p.Arg24Gln) rs74821926

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