ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Center for Human Genetics, Inc,Center for Human Genetics, Inc

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000381.4(MID1):c.1361A>G (p.Gln454Arg) rs1556004400
NM_000381.4(MID1):c.1454del (p.Pro485fs) rs1556003200
NM_000381.4(MID1):c.1725G>A (p.Trp575Ter) rs1556001968
NM_000381.4(MID1):c.1881C>A (p.Tyr627Ter) rs1556001856
NM_000381.4(MID1):c.922del (p.Arg308fs) rs1555894390
NM_001110792.2(MECP2):c.876del (p.Ala293fs) rs1557136332
NM_001110792.2(MECP2):c.890del (p.Lys297fs) rs267608531
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_002351.4(SH2D1A):c.385T>C (p.Ter129Arg) rs111033625
NM_002351.4(SH2D1A):c.5A>G (p.Asp2Gly) rs1556619319
NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu) rs1557189455
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter) rs1269514277
NM_004463.3(FGD1):c.277dup (p.Tyr93fs) rs1557191567
NM_004586.3(RPS6KA3):c.1308C>A (p.Cys436Ter) rs1160828151
NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs) rs1555924704
NM_004586.3(RPS6KA3):c.774+1G>C rs1555939331
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202

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