List of variants reported as likely benign for Smith-Lemli-Opitz syndrome by Illumina Laboratory Services, Illumina

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

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001360.3(DHCR7):c.-23T>C	rs12573951	0.04720
NM_001360.3(DHCR7):c.-35C>T	rs75974711	0.02601
NM_001360.3(DHCR7):c.*451A>G	rs11233662	0.01903
NM_001360.3(DHCR7):c.*565G>A	rs79320071	0.01308
NM_001360.3(DHCR7):c.*358C>T	rs78575838	0.01207
NM_001360.3(DHCR7):c.570C>T (p.Ala190=)	rs74909468	0.01042
NM_001360.3(DHCR7):c.99-4G>A	rs140748737	0.00988
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe)	rs115595829	0.00911
NM_001360.3(DHCR7):c.1008C>T (p.His336=)	rs75225632	0.00542
NM_001360.3(DHCR7):c.549C>T (p.Cys183=)	rs115446684	0.00470
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)	rs139721775	0.00305
NM_001360.3(DHCR7):c.161_172del	rs141483210

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