ClinVar Miner

List of variants in gene CDHR1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.240C>T (p.Val80=) rs11593005 0.00943
NM_033100.4(CDHR1):c.2041-15G>A rs61867367 0.00830
NM_033100.4(CDHR1):c.*305C>T rs41291360 0.00576
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.1071C>T (p.Ser357=) rs146588811 0.00167
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_033100.4(CDHR1):c.1553+6T>C rs199567321 0.00139
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272 0.00121
NM_033100.4(CDHR1):c.556C>T (p.His186Tyr) rs147420731 0.00120
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.2367G>A (p.Pro789=) rs150097621 0.00044
NM_033100.4(CDHR1):c.689C>T (p.Thr230Ile) rs141173656 0.00024
NM_033100.4(CDHR1):c.1187A>G (p.Asn396Ser) rs145353541 0.00014
NM_033100.4(CDHR1):c.628G>A (p.Val210Met) rs774747506 0.00003
NM_033100.4(CDHR1):c.1950C>T (p.Cys650=) rs137996315 0.00001
NM_033100.4(CDHR1):c.2155A>T (p.Ile719Phe) rs772664931 0.00001
NM_033100.4(CDHR1):c.2218C>T (p.Leu740Phe) rs762396052 0.00001
NM_033100.4(CDHR1):c.*1915C>G rs41291362
NM_033100.4(CDHR1):c.1291T>C (p.Phe431Leu)
NM_033100.4(CDHR1):c.1700T>C (p.Leu567Pro) rs1064797147

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