ClinVar Miner

List of variants in gene CHAMP1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_032436.4(CHAMP1):c.1702C>G (p.Leu568Val) rs3764522 0.00349
NM_032436.4(CHAMP1):c.2025T>C (p.Ser675=) rs186679023 0.00302
NM_032436.4(CHAMP1):c.2409T>G (p.Leu803=) rs149344812 0.00238
NM_032436.4(CHAMP1):c.1664G>A (p.Arg555Gln) rs142125006 0.00064
NM_032436.4(CHAMP1):c.1311A>G (p.Pro437=) rs371126156 0.00018
NM_032436.4(CHAMP1):c.1691C>G (p.Pro564Arg) rs147842405 0.00017
NM_032436.4(CHAMP1):c.1521C>A (p.Ser507=) rs150753986 0.00015
NM_032436.4(CHAMP1):c.1209G>C (p.Thr403=) rs149624011 0.00014
NM_032436.4(CHAMP1):c.675C>A (p.Pro225=) rs201875013 0.00008
NM_032436.4(CHAMP1):c.22C>T (p.Arg8Cys) rs371511810 0.00003
NM_032436.4(CHAMP1):c.1123G>A (p.Val375Ile) rs1594130502
NM_032436.4(CHAMP1):c.1224T>C (p.His408=)
NM_032436.4(CHAMP1):c.1363C>T (p.Gln455Ter) rs2087230045
NM_032436.4(CHAMP1):c.1367G>A (p.Arg456Gln)
NM_032436.4(CHAMP1):c.1485G>C (p.Glu495Asp)
NM_032436.4(CHAMP1):c.1552G>C (p.Val518Leu)
NM_032436.4(CHAMP1):c.1596C>T (p.Pro532=)
NM_032436.4(CHAMP1):c.1636C>T (p.Arg546Cys)
NM_032436.4(CHAMP1):c.1680_1683dup (p.Glu562delinsProTer) rs1594131663
NM_032436.4(CHAMP1):c.1891C>T (p.Leu631Phe)
NM_032436.4(CHAMP1):c.37C>T (p.Arg13Cys)
NM_032436.4(CHAMP1):c.412G>C (p.Gly138Arg)
NM_032436.4(CHAMP1):c.446CTC[1] (p.Pro150del)
NM_032436.4(CHAMP1):c.484G>T (p.Val162Phe)
NM_032436.4(CHAMP1):c.520_522del (p.Pro174del) rs535593712
NM_032436.4(CHAMP1):c.584A>G (p.Glu195Gly) rs1173593445
NM_032436.4(CHAMP1):c.632C>T (p.Ala211Val)
NM_032436.4(CHAMP1):c.676A>T (p.Lys226Ter) rs2087215071
NM_032436.4(CHAMP1):c.750A>G (p.Leu250=)
NM_032436.4(CHAMP1):c.796G>A (p.Glu266Lys) rs782551982
NM_032436.4(CHAMP1):c.814C>T (p.Arg272Trp)
NM_032436.4(CHAMP1):c.893dup (p.Glu299fs) rs2139419654
NM_032436.4(CHAMP1):c.977A>G (p.Asn326Ser)

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