List of variants studied for congenital adrenal hyperplasia by Revvity Omics, Revvity

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000349.3(STAR):c.661G>A (p.Gly221Ser)	rs139081695	0.00004
NM_000349.3(STAR):c.562C>T (p.Arg188Cys)	rs104894090	0.00003
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg)	rs367833709	0.00002
NM_000102.4(CYP17A1):c.350C>G (p.Ser117Cys)
NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln)
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter)	rs905880501
NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr)	rs80358220
NM_000198.4(HSD3B2):c.875G>A (p.Trp292Ter)	rs756663759
NM_000349.3(STAR):c.201_202del (p.Tyr68fs)	rs1563268652
NM_000349.3(STAR):c.545G>A (p.Arg182His)	rs104894086
NM_000349.3(STAR):c.650+1G>A	rs1563267767
NM_000349.3(STAR):c.727C>T (p.Leu243Phe)

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