ClinVar Miner

List of variants reported as likely pathogenic for X-linked recessive disease by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_123497345)_(123505232_?)del
NC_000023.10:g.(?_123499639)_(123506985_?)del
NC_000023.11:g.(?_123888599)_(123888738_?)dup
NM_000240.4(MAOA):c.73+1G>C
NM_001167.4(XIAP):c.1057-1G>T
NM_001167.4(XIAP):c.1099+2T>C rs2148097889
NM_001167.4(XIAP):c.1317_1318delinsAT (p.Gln440Ter) rs2148112156
NM_001167.4(XIAP):c.877+1G>C
NM_002351.5(SH2D1A):c.197_201+9del rs2060052777

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