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

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Total variants: 13

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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.1814_1836dup (p.Arg613delinsGlyArgThrTer)
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
NM_001555.5(IGSF1):c.404_407del (p.Trp135fs)
NM_001555.5(IGSF1):c.461_486del (p.Gly154fs)

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