ClinVar Miner

List of variants in gene LOC112577486, PLOD1 studied for Ehlers-Danlos syndrome, kyphoscoliotic type 1

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000302.4(PLOD1):c.77-3407C>T rs75220940 0.01953
NM_000302.4(PLOD1):c.77-3370G>A rs112799470 0.00836
NM_000302.4(PLOD1):c.77-3358C>T rs534978828 0.00153
NM_000302.4(PLOD1):c.77-3320G>C rs2100738654
NM_000302.4(PLOD1):c.77-3339C>T
NM_000302.4(PLOD1):c.77-3351T>C rs1397591568
NM_000302.4(PLOD1):c.77-3403T>C rs1645637106

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