ClinVar Miner

List of variants in gene IGSF1 reported as pathogenic for X-linked central congenital hypothyroidism with late-onset testicular enlargement

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001555.5(IGSF1):c.3790C>T (p.Arg1264Ter) rs1309588455 0.00001
NM_001555.5(IGSF1):c.2123_2149del (p.Ala708_Lys716del) rs1556181091
NM_001555.5(IGSF1):c.2233del (p.Glu745fs) rs398122920
NM_001555.5(IGSF1):c.2268dup (p.Arg757fs) rs1603404421
NM_001555.5(IGSF1):c.2303T>C (p.Leu768Pro) rs1603404413
NM_001555.5(IGSF1):c.2407dup (p.His803fs) rs1603404297
NM_001555.5(IGSF1):c.2573C>T (p.Ser858Phe) rs397514622
NM_001555.5(IGSF1):c.2916G>A (p.Trp972Ter) rs398122919
NM_001555.5(IGSF1):c.3550C>T (p.Arg1184Ter) rs1220996970
NM_001555.5(IGSF1):c.3581dup (p.Glu1195fs) rs398122921

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