ClinVar Miner

List of variants reported as uncertain significance for X-linked disease by GOLD service, Hunter New England Health

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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NM_001081550.2(THOC2):c.1550A>G (p.Tyr517Cys) rs1556036052
NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp)
NM_001081550.2(THOC2):c.2170A>G (p.Lys724Glu)
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.2642A>G (p.Tyr881Cys)
NM_001081550.2(THOC2):c.2942G>A (p.Cys981Tyr) rs1556017474
NM_001081550.2(THOC2):c.3223C>T (p.Arg1075Trp)
NM_001081550.2(THOC2):c.3300G>T (p.Trp1100Cys)
NM_001081550.2(THOC2):c.3323C>T (p.Ser1108Leu) rs1556015593
NM_001081550.2(THOC2):c.3361A>G (p.Arg1121Gly) rs1556015553
NM_001081550.2(THOC2):c.3781A>C (p.Asn1261His) rs1556014537
NM_001081550.2(THOC2):c.4646A>G (p.Lys1549Arg)

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