ClinVar Miner

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

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000032.5(ALAS2):c.373A>G (p.Ile125Val) rs143995220 0.00030
NM_000054.7(AVPR2):c.1010G>A (p.Arg337Gln) rs782160409 0.00007
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp) rs782760033 0.00002
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_001082486.2(ACD):c.599C>T (p.Thr200Ile) rs1181866888 0.00002
NM_000033.4(ABCD1):c.1635-3C>G rs2148397866
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.431C>T (p.Ala144Val)
NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys) rs1569540705
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000252.3(MTM1):c.821T>G (p.Leu274Arg) rs2148493317
NM_001039591.3(USP9X):c.802_803del (p.Leu268fs)
NM_001082486.2(ACD):c.100G>A (p.Val34Ile) rs2052973227
NM_001167.4(XIAP):c.581T>A (p.Ile194Asn) rs2148089918
NM_004187.5(KDM5C):c.3517A>T (p.Ser1173Cys) rs1602162404
NM_006013.5(RPL10):c.578A>G (p.Asp193Gly) rs2068013450
NM_006517.5(SLC16A2):c.976T>C (p.Phe326Leu)
NM_006950.3(SYN1):c.986C>T (p.Thr329Met) rs2057777813
NM_033380.3(COL4A5):c.1069G>A (p.Glu357Lys) rs1186225656

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