ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, arthrochalasia type by Genome-Nilou Lab

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) rs2734272 0.99956
NM_000088.4(COL1A1):c.2830-33C>G rs2586489 0.99956
NM_000088.4(COL1A1):c.3223= (p.Ala1075=) rs1800215 0.97286
NM_000088.4(COL1A1):c.2028+39C>T rs2857396 0.85962
NM_000088.4(COL1A1):c.1984-41G>A rs2586490 0.70223
NM_000088.4(COL1A1):c.3261+31T>C rs2586488 0.66062
NM_000088.4(COL1A1):c.299-20C>G rs2256835 0.54824
NM_000088.4(COL1A1):c.588+33T>C rs35231764 0.22664
NM_000088.4(COL1A1):c.3815-35T>C rs2277632 0.18865

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