ClinVar Miner

List of variants studied for X-linked cerebral adrenoleukodystrophy by Johns Hopkins Genomics,Johns Hopkins University

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1225-7_1239del rs1569541009
NM_000033.4(ABCD1):c.1628del (p.Pro543fs)
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro)
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)
NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys) rs1569540705
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)

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