ClinVar Miner

List of variants in gene C1S reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 20
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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.934G>A (p.Val312Ile) rs147147059 0.00191
NM_001734.5(C1S):c.1218C>T (p.Asn406=) rs138733003 0.00100
NM_001734.5(C1S):c.1326C>T (p.Ser442=) rs148573885 0.00084
NM_001734.5(C1S):c.1284C>G (p.Pro428=) rs144851896 0.00067
NM_001734.5(C1S):c.100A>G (p.Ser34Gly) rs148105120 0.00043
NM_001734.5(C1S):c.979G>C (p.Val327Leu) rs2239170 0.00032
NM_001734.5(C1S):c.1114G>T (p.Asp372Tyr) rs201750214 0.00020
NM_001734.5(C1S):c.1600C>T (p.Arg534Trp) rs121909582 0.00020
NM_001734.5(C1S):c.513C>T (p.Cys171=) rs782165948 0.00011
NM_001734.5(C1S):c.394A>G (p.Ile132Val) rs1198867920 0.00004
NM_001734.5(C1S):c.1611C>T (p.Asp537=) rs782204393 0.00002
NM_001734.5(C1S):c.578C>T (p.Pro193Leu) rs199916072 0.00002
NM_001734.5(C1S):c.192C>T (p.Asn64=) rs782641483 0.00001
NM_001734.5(C1S):c.57G>A (p.Met19Ile) rs1217725213 0.00001
NM_001734.5(C1S):c.650C>A (p.Thr217Asn) rs782489860 0.00001
NM_001734.5(C1S):c.1712G>A (p.Gly571Asp)
NM_001734.5(C1S):c.306A>G (p.Pro102=) rs144939472
NM_001734.5(C1S):c.476C>T (p.Pro159Leu) rs1947142392
NM_001734.5(C1S):c.479C>T (p.Pro160Leu) rs1400068569

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