ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, spondylocheirodysplastic type

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Total variants: 23
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HGVS dbSNP
NM_001128225.3(SLC39A13):c.1000G>A (p.Val334Met)
NM_001128225.3(SLC39A13):c.1074G>A (p.Ala358=) rs576702857
NM_001128225.3(SLC39A13):c.118C>T (p.Arg40Trp)
NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln) rs35741412
NM_001128225.3(SLC39A13):c.139C>T (p.Arg47Cys)
NM_001128225.3(SLC39A13):c.185G>C (p.Gly62Ala) rs1565660438
NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp) rs121434363
NM_001128225.3(SLC39A13):c.265A>G (p.Ile89Val)
NM_001128225.3(SLC39A13):c.302-3T>C
NM_001128225.3(SLC39A13):c.35C>T (p.Ala12Val)
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843
NM_001128225.3(SLC39A13):c.492G>T (p.Ala164=) rs149634596
NM_001128225.3(SLC39A13):c.615C>G (p.Pro205=) rs147495812
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.78C>A (p.Leu26=) rs140844921
NM_001128225.3(SLC39A13):c.83= (p.Glu28=) rs2010519
NM_001128225.3(SLC39A13):c.991A>G (p.Ile331Val)
SLC39A13, 9-BP DEL, NT483

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