ClinVar Miner

List of variants studied for X-linked disease by Division of Human Genetics,Children's Hospital of Philadelphia

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_001037811.2(HSD17B10):c.218C>G (p.Thr73Arg) rs794729644
NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser) rs75666426
NM_014332.3(SMPX):c.133-1G>A rs1060499590
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077

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