ClinVar Miner

List of variants reported as uncertain significance for X-linked disease by Johns Hopkins Genomics,Johns Hopkins University

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1991+68_1992-4del rs1603236039
NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro) rs1603236086
NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys) rs1569540705
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp) rs782760033
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_004187.5(KDM5C):c.3517A>T (p.Ser1173Cys) rs1602162404
NM_019056.6(NDUFB11):c.457G>A (p.Asp153Asn) rs374083393

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