ClinVar Miner

List of variants reported as pathogenic for X-linked disease by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) rs587783771 0.00001
NM_000252.3(MTM1):c.1053+1G>A rs587783751
NM_000252.3(MTM1):c.1089dup (p.Val364fs) rs587783752
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter) rs782234944
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.3(MTM1):c.342_342+4del rs797045717
NM_000252.3(MTM1):c.593A>C (p.Tyr198Ser) rs1569565497
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter) rs587783847
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.3(MTM1):c.969dup (p.Val324fs) rs587783865
NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs) rs1555972957
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.5(NR0B1):c.1168+1_1168+20del rs1555972943
NM_000475.5(NR0B1):c.1340T>C (p.Leu447Pro) rs1555972641
NM_000475.5(NR0B1):c.1364_1365del (p.Thr455fs) rs1555972640
NM_000475.5(NR0B1):c.277del (p.Ala93fs) rs1555973189
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter) rs1555973172
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000475.5(NR0B1):c.754del (p.Gln252fs) rs1555973063
NM_000475.5(NR0B1):c.806T>A (p.Val269Asp) rs1555973045
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro) rs104894907
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) rs1324519932
NM_000475.5(NR0B1):c.952C>T (p.Gln318Ter) rs1555972994
NM_001184880.2(PCDH19):c.489_490delinsAT (p.Gln164Ter) rs1555985639

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