ClinVar Miner

List of variants in gene C1R reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001733.7(C1R):c.3-106G>T rs117830039 0.00498
NM_001733.7(C1R):c.1038+120A>G rs192083283 0.00473
NM_001733.7(C1R):c.27G>A (p.Pro9=) rs146478898 0.00314
NM_001733.7(C1R):c.336G>C (p.Met112Ile) rs139531404 0.00271
NM_001733.7(C1R):c.3-101T>C rs746654318 0.00042
NM_001733.7(C1R):c.26C>T (p.Pro9Leu) rs201255383 0.00024
NM_001733.7(C1R):c.969C>T (p.Asn323=) rs36182532 0.00018
NM_001733.7(C1R):c.2091C>G (p.Ile697Met) rs780674662 0.00003
NM_001733.7(C1R):c.366C>T (p.Asn122=) rs150953301 0.00003
NM_001733.7(C1R):c.704A>G (p.Lys235Arg) rs763297354 0.00001
NM_001733.7(C1R):c.2100G>A (p.Glu700=)
NM_001733.7(C1R):c.647C>G (p.Pro216Arg) rs189155429
NM_001733.7(C1R):c.876G>A (p.Ser292=) rs570489350

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