List of variants in gene combination CYP19A1, MIR4713HG, PIRC66 reported as pathogenic for Aromatase deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln)	rs80051519	0.00003
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys)	rs121434534	0.00003
NM_000103.4(CYP19A1):c.1123C>T (p.Arg375Cys)	rs121434536	0.00001
NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys)	rs121434538	0.00001
NM_000103.4(CYP19A1):c.1058dup (p.Leu353fs)	rs769461019
NM_000103.4(CYP19A1):c.1224del (p.Lys409fs)	rs786205108
NM_000103.4(CYP19A1):c.1232A>G (p.Asn411Ser)
NM_000103.4(CYP19A1):c.1310G>A (p.Cys437Tyr)	rs78310315
NM_000103.4(CYP19A1):c.296+1G>A	rs786205109
NM_000103.4(CYP19A1):c.343C>T (p.Arg115Ter)	rs2141079375
NM_000103.4(CYP19A1):c.469del (p.Val158fs)
NM_000103.4(CYP19A1):c.629-3C>A	rs786205110
NM_000103.4(CYP19A1):c.743+2T>C	rs786205107

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