List of variants in gene SMO studied for Pallister-Hall syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_005631.5(SMO):c.1164G>C (p.Gly388=)	rs2228617	0.78614
NM_005631.5(SMO):c.1264+41A>G	rs2735842	0.78562
NM_005631.5(SMO):c.538-26C>T	rs2703091	0.78431
NM_005631.5(SMO):c.621C>T (p.Tyr207=)	rs56318556	0.00282
NM_005631.5(SMO):c.2057C>T (p.Ala686Val)	rs587778688	0.00015
NM_005631.5(SMO):c.1727G>A (p.Arg576Gln)	rs577512487	0.00002
NM_005631.5(SMO):c.1792G>A (p.Gly598Arg)	rs762491039	0.00002
NM_005631.5(SMO):c.1339G>T (p.Glu447Ter)	rs1006687669	0.00001
NM_005631.5(SMO):c.1726C>T (p.Arg576Trp)	rs767688088	0.00001
NM_005631.5(SMO):c.2291_2292del (p.Gln764fs)	rs1157132860	0.00001
NM_005631.5(SMO):c.781C>T (p.Arg261Cys)	rs755698791	0.00001
NM_005631.5(SMO):c.1198C>T (p.Arg400Cys)	rs766211091
NM_005631.5(SMO):c.1285A>T (p.Ile429Phe)	rs1793814652
NM_005631.5(SMO):c.1358-3C>T
NM_005631.5(SMO):c.1798G>A (p.Val600Met)
NM_005631.5(SMO):c.2126G>A (p.Arg709Gln)
NM_005631.5(SMO):c.747+24G>C	rs2075777
NM_005631.5(SMO):c.754T>C (p.Phe252Leu)	rs1793751061

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