List of variants reported as pathogenic for adrenogenital syndrome by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000349.3(STAR):c.64+1G>T	rs765968701	0.00007
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)	rs104894138	0.00006
NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr)	rs757033996	0.00005
NM_000198.4(HSD3B2):c.745C>T (p.Arg249Ter)	rs80358217	0.00005
NM_000349.3(STAR):c.772C>T (p.Gln258Ter)	rs104894085	0.00005
NM_000349.3(STAR):c.562C>T (p.Arg188Cys)	rs104894090	0.00003
NM_000349.3(STAR):c.653C>T (p.Ala218Val)	rs137852690	0.00003
NM_000102.4(CYP17A1):c.297+2T>C	rs764723654	0.00002
NM_000198.4(HSD3B2):c.15C>A (p.Cys5Ter)	rs766474996	0.00002
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His)	rs61754278	0.00001
NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys)	rs104894142	0.00001
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His)	rs752811843	0.00001
NM_000102.4(CYP17A1):c.1118A>T (p.His373Leu)	rs760695410	0.00001
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro)	rs104894135	0.00001
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter)	rs148200568	0.00001
NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys)	rs80358219	0.00001
NM_000349.3(STAR):c.229C>T (p.Gln77Ter)	rs781281145	0.00001
NM_000349.3(STAR):c.779T>C (p.Leu260Pro)	rs551783234	0.00001
NM_000102.4(CYP17A1):c.1072C>T (p.Arg358Ter)	rs2134082367
NM_000102.4(CYP17A1):c.1283C>T (p.Pro428Leu)	rs104894145
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del)	rs756135168
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)	rs121434319
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter)	rs104894136
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter)	rs905880501
NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter)	rs80358216
NM_000198.4(HSD3B2):c.558dup (p.Thr187fs)	rs770815049
NM_000349.3(STAR):c.201_202del (p.Tyr68fs)	rs1563268652
NM_000349.3(STAR):c.544C>T (p.Arg182Cys)	rs369232492
NM_000349.3(STAR):c.545G>A (p.Arg182His)	rs104894086

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