List of variants reported as likely pathogenic for aromatase deficiency

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys)	rs121434534	0.00003
NM_000103.4(CYP19A1):c.242A>G (p.Tyr81Cys)	rs199845027	0.00003
NM_000103.4(CYP19A1):c.297-1G>C	rs768157788	0.00002
NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln)	rs80051519	0.00001
NM_000103.4(CYP19A1):c.1022-2A>G
NM_000103.4(CYP19A1):c.1024G>T (p.Glu342Ter)
NM_000103.4(CYP19A1):c.1058dup (p.Leu353fs)	rs769461019
NM_000103.4(CYP19A1):c.1232A>G (p.Asn411Ser)
NM_000103.4(CYP19A1):c.1263+1G>T	rs2031075939
NM_000103.4(CYP19A1):c.1369C>T (p.Arg457Ter)
NM_000103.4(CYP19A1):c.145+2T>A
NM_000103.4(CYP19A1):c.316del (p.His105_Ile106insTer)
NM_000103.4(CYP19A1):c.724A>T (p.Lys242Ter)
NM_031226.3(CYP19A1):c.297del

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