List of variants reported as benign for Smith-Lemli-Opitz syndrome by Genome-Nilou Lab

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001360.3(DHCR7):c.438T>C (p.Asn146=)	rs949177	0.90629
NM_001360.3(DHCR7):c.207T>C (p.Thr69=)	rs1790334	0.90380
NM_001360.3(DHCR7):c.832-80T>C	rs949176	0.86228
NM_001360.3(DHCR7):c.1158T>C (p.Asp386=)	rs760241	0.85831
NM_001360.3(DHCR7):c.831+69G>A	rs1792265	0.83923
NM_001360.3(DHCR7):c.964-67C>T	rs1792268	0.83849
NM_001360.3(DHCR7):c.189G>A (p.Gln63=)	rs1044482	0.59041
NM_001360.3(DHCR7):c.1272C>T (p.Gly424=)	rs909217	0.56172
NM_001360.3(DHCR7):c.322-60G>T	rs11603330	0.53778
NM_001360.3(DHCR7):c.626+15G>A	rs736894	0.30458
NM_001360.3(DHCR7):c.231C>T (p.Thr77=)	rs4316537	0.08662
NM_001360.3(DHCR7):c.1008C>T (p.His336=)	rs75225632	0.00447
NM_001360.3(DHCR7):c.321+219C>T	rs12422045

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