List of variants reported as likely benign for Smith-Lemli-Opitz syndrome by Natera, Inc.

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

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_001360.3(DHCR7):c.-23T>C	rs12573951	0.04501
NM_001360.3(DHCR7):c.-35C>T	rs75974711	0.02735
NM_001360.3(DHCR7):c.99-10G>A	rs189549129	0.00495
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.208G>A (p.Gly70Ser)	rs144512551	0.00129
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)	rs144562471	0.00054
NM_001360.3(DHCR7):c.139C>T (p.Leu47=)	rs140721259	0.00027
NM_001360.3(DHCR7):c.586A>G (p.Met196Val)	rs200474791	0.00026
NM_001360.3(DHCR7):c.1410G>A (p.Leu470=)	rs375993195	0.00012
NM_001360.3(DHCR7):c.1269C>T (p.Gly423=)	rs145374203	0.00010
NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=)	rs557097410	0.00010
NM_001360.3(DHCR7):c.1362G>A (p.Lys454=)	rs147850435	0.00009
NM_001360.3(DHCR7):c.15G>A (p.Ser5=)	rs147038941	0.00009
NM_001360.3(DHCR7):c.522C>T (p.Phe174=)	rs140648594	0.00006
NM_001360.3(DHCR7):c.159C>T (p.Ile53=)	rs752952700	0.00004
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=)	rs200477386	0.00003
NM_001360.3(DHCR7):c.336G>A (p.Thr112=)	rs759750125	0.00003
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=)	rs779401555	0.00003
NM_001360.3(DHCR7):c.1134C>T (p.Ile378=)	rs773505265	0.00002
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)	rs368473756	0.00001
NM_001360.3(DHCR7):c.442C>T (p.Leu148=)	rs758693177	0.00001
NM_001360.3(DHCR7):c.45A>G (p.Leu15=)	rs150214075	0.00001
NM_001360.3(DHCR7):c.771G>A (p.Ala257=)	rs200232012	0.00001
NM_001360.3(DHCR7):c.282G>A (p.Arg94=)	rs541593878
NM_001360.3(DHCR7):c.465C>T (p.His155=)	rs1949346657
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser)	rs146867923
NM_001360.3(DHCR7):c.906C>T (p.Phe302=)	rs80338858

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