List of variants reported as likely pathogenic for Classic homocystinuria by Myriad Genetics, Inc.

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

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	rs28934891	0.00026
NM_000071.3(CBS):c.362G>A (p.Arg121His)	rs770095972	0.00010
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)	rs121964966	0.00002
NM_000071.3(CBS):c.1075A>T (p.Lys359Ter)
NM_000071.3(CBS):c.1179del (p.Lys394fs)
NM_000071.3(CBS):c.1210G>T (p.Glu404Ter)	rs1981682654
NM_000071.3(CBS):c.1288_1289del (p.Thr430fs)
NM_000071.3(CBS):c.218_230del (p.Ser73fs)
NM_000071.3(CBS):c.430G>T (p.Glu144Ter)	rs121964966
NM_000071.3(CBS):c.503_504del (p.Val168fs)
NM_000071.3(CBS):c.529A>T (p.Lys177Ter)	rs1982601982
NM_000071.3(CBS):c.588del (p.Arg196fs)
NM_000071.3(CBS):c.606dup (p.His203fs)
NM_000071.3(CBS):c.637G>T (p.Glu213Ter)	rs758703098
NM_000071.3(CBS):c.715G>T (p.Glu239Ter)	rs1982493665
NM_000071.3(CBS):c.95delinsATAAGAGACAGT (p.Ser32fs)

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