ClinVar Miner

List of variants in gene CDHR1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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

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