List of variants reported as benign for Smith-Lemli-Opitz syndrome by Invitae

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Total variants: 24

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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.1158T>C (p.Asp386=)	rs760241	0.85831
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.626+15G>A	rs736894	0.30458
NM_001360.3(DHCR7):c.231C>T (p.Thr77=)	rs4316537	0.08662
NM_001360.3(DHCR7):c.570C>T (p.Ala190=)	rs74909468	0.01097
NM_001360.3(DHCR7):c.99-4G>A	rs140748737	0.00988
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe)	rs115595829	0.00983
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=)	rs35946774	0.00608
NM_001360.3(DHCR7):c.99-10G>A	rs189549129	0.00495
NM_001360.3(DHCR7):c.549C>T (p.Cys183=)	rs115446684	0.00470
NM_001360.3(DHCR7):c.1008C>T (p.His336=)	rs75225632	0.00447
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)	rs139721775	0.00296
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)	rs147424205	0.00248
NM_001360.3(DHCR7):c.321+10C>T	rs377108406	0.00189
NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile)	rs148081697	0.00075
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)	rs150928869	0.00031
NM_001360.3(DHCR7):c.586A>G (p.Met196Val)	rs200474791	0.00026
NM_001360.3(DHCR7):c.987C>T (p.Pro329=)	rs145901607	0.00024
NM_001360.3(DHCR7):c.408T>G (p.Pro136=)	rs772940271	0.00002
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)	rs368473756	0.00001
NM_001360.3(DHCR7):c.964-8dup	rs1305056733

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