ClinVar Miner

List of variants reported as benign for X-linked central congenital hypothyroidism with late-onset testicular enlargement

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001555.5(IGSF1):c.93A>G (p.Ser31=) rs4495600 0.99369
NM_001555.5(IGSF1):c.114A>G (p.Pro38=) rs5930458 0.98470
NM_001555.5(IGSF1):c.948G>A (p.Val316=) rs5932877 0.91610
NM_001555.5(IGSF1):c.1347A>G (p.Glu449=) rs1128617 0.48301
NM_001555.5(IGSF1):c.2556T>C (p.Tyr852=) rs4830219 0.36154
NM_001555.5(IGSF1):c.3579C>T (p.Val1193=) rs6529473 0.29000
NM_001555.5(IGSF1):c.2041+24G>A rs3810725 0.06489

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