List of variants in gene C1S studied for Complement component C1s deficiency

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001734.5(C1S):c.943G>A (p.Asp315Asn)	rs117907409	0.00349
NM_001734.5(C1S):c.733C>T (p.Arg245Trp)	rs147971272	0.00003
NM_001734.5(C1S):c.1132_1135del (p.Phe378fs)	rs2135727106
NM_001734.5(C1S):c.1567C>T (p.Arg523Ter)
NM_001734.5(C1S):c.1729_1730del (p.Asp577fs)
NM_001734.5(C1S):c.343del (p.Ser115fs)

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