List of variants studied for autosomal recessive disease by SingHealth Duke-NUS Institute of Precision Medicine

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.158G>A (p.Arg53His)	rs118092776	0.00091
NM_000360.4(TH):c.605G>A (p.Arg202His)	rs80338892	0.00014
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)	rs76687508	0.00009
NM_000360.4(TH):c.364C>T (p.Arg122Ter)	rs771610752	0.00002
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)	rs104894275	0.00001
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)	rs104894280	0.00001
NM_000019.4(ACAT1):c.1043del (p.Ala348fs)	rs1565297769
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)	rs80358254
NM_000360.4(TH):c.714_715del (p.Leu239fs)	rs1564918287
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del)	rs766316288

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