ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, spondylocheirodysplastic type

Included ClinVar conditions (1):
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Total variants: 13
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NM_001128225.3(SLC39A13):c.1000G>A (p.Val334Met)
NM_001128225.3(SLC39A13):c.118C>T (p.Arg40Trp)
NM_001128225.3(SLC39A13):c.139C>T (p.Arg47Cys)
NM_001128225.3(SLC39A13):c.185G>C (p.Gly62Ala) rs1565660438
NM_001128225.3(SLC39A13):c.265A>G (p.Ile89Val)
NM_001128225.3(SLC39A13):c.35C>T (p.Ala12Val)
NM_001128225.3(SLC39A13):c.635G>A (p.Arg212Gln) rs200490683
NM_001128225.3(SLC39A13):c.640A>G (p.Ile214Val) rs750123189
NM_001128225.3(SLC39A13):c.736A>G (p.Ile246Val) rs767784704
NM_001128225.3(SLC39A13):c.767T>C (p.Leu256Pro) rs924156969
NM_001128225.3(SLC39A13):c.786+6C>T rs779162662
NM_001128225.3(SLC39A13):c.991A>G (p.Ile331Val)

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