ClinVar Miner

List of variants in gene CDHR1 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.*4A>G rs3814212 0.67129
NM_033100.4(CDHR1):c.2439T>C (p.Thr813=) rs3814213 0.58250
NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser) rs45584033 0.03229
NM_033100.4(CDHR1):c.-1C>T rs114273269 0.00682
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961 0.00404
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=) rs141787212 0.00145
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272 0.00121
NM_033100.4(CDHR1):c.2229G>A (p.Arg743=) rs150969538 0.00106
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys) rs141706561 0.00051
NM_033100.4(CDHR1):c.1471G>A (p.Val491Met) rs138638103 0.00006
NM_033100.4(CDHR1):c.1A>G (p.Met1Val) rs794726954 0.00003
NM_033100.4(CDHR1):c.2470C>T (p.Gln824Ter) rs762298688 0.00003
NM_033100.4(CDHR1):c.833C>T (p.Pro278Leu) rs543254581 0.00002
NM_033100.4(CDHR1):c.1357A>G (p.Ser453Gly) rs886044615
NM_033100.4(CDHR1):c.1877C>T (p.Thr626Met) rs143024855
NM_033100.4(CDHR1):c.2246_2253del (p.Arg749fs) rs886044648
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.595G>T (p.Asp199Tyr) rs199671784

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