ClinVar Miner

List of variants reported as uncertain significance for Kartagener syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn) rs141690214 0.00048
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met) rs150261456 0.00013
NM_012144.4(DNAI1):c.1001C>T (p.Ser334Phe) rs1451350869 0.00012
NM_012144.4(DNAI1):c.1822C>A (p.His608Asn) rs148762102 0.00007
NM_012144.4(DNAI1):c.1913A>G (p.Asn638Ser) rs201773877 0.00004
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser) rs182015909 0.00003
NM_012144.4(DNAI1):c.1736A>G (p.Tyr579Cys) rs760852851 0.00001
NM_012144.4(DNAI1):c.1935T>G (p.Ile645Met) rs1393988058
NM_012144.4(DNAI1):c.22G>C (p.Ala8Pro) rs11547035

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