ClinVar Miner

List of variants in gene CDHR1 reported by GeneDx

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.*4A>G rs3814212 0.66177
NM_033100.4(CDHR1):c.2439T>C (p.Thr813=) rs3814213 0.58250
NM_033100.4(CDHR1):c.640-86T>G rs7073076 0.54780
NM_033100.4(CDHR1):c.477A>G (p.Ala159=) rs4933975 0.52743
NM_033100.4(CDHR1):c.439-61C>T rs10788334 0.52142
NM_033100.4(CDHR1):c.1662A>G (p.Glu554=) rs10749482 0.42520
NM_033100.4(CDHR1):c.1486-57G>A rs4933978 0.30923
NM_033100.4(CDHR1):c.348+89A>C rs11200915 0.28581
NM_033100.4(CDHR1):c.349-49T>C rs11200917 0.18385
NM_033100.4(CDHR1):c.439-83A>C rs11200920 0.16508
NM_033100.4(CDHR1):c.151+95C>T rs11592361 0.09149
NM_033100.4(CDHR1):c.863-9C>T rs4933977 0.08562
NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser) rs45584033 0.03229
NM_033100.4(CDHR1):c.862+82G>T rs74145747 0.02818
NM_033100.4(CDHR1):c.640-16T>C rs7073214 0.02805
NM_033100.4(CDHR1):c.728C>T (p.Ala243Val) rs7086200 0.02804
NM_033100.4(CDHR1):c.486G>C (p.Arg162Ser) rs74145715 0.02792
NM_033100.4(CDHR1):c.1515C>T (p.Gly505=) rs116594644 0.01656
NM_033100.4(CDHR1):c.55+46A>G rs115146172 0.01610
NM_033100.4(CDHR1):c.56-86C>T rs148784005 0.00979
NM_033100.4(CDHR1):c.240C>T (p.Val80=) rs11593005 0.00931
NM_033100.4(CDHR1):c.1321-60G>T rs115955756 0.00534
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_033100.4(CDHR1):c.1553+6T>C rs199567321 0.00131
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272 0.00121
NM_033100.4(CDHR1):c.700G>A (p.Val234Ile) rs148356887 0.00052
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys) rs141706561 0.00051
NM_033100.4(CDHR1):c.415C>G (p.Pro139Ala) rs192282380 0.00020
NM_033100.4(CDHR1):c.1A>G (p.Met1Val) rs794726954 0.00002
NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter) rs1589306127
NM_033100.4(CDHR1):c.1463del (p.Gly488fs) rs756678484
NM_033100.4(CDHR1):c.159C>A (p.His53Gln) rs12781048
NM_033100.4(CDHR1):c.1978G>A (p.Asp660Asn) rs1085307801
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.298-86G>A rs117699987
NM_033100.4(CDHR1):c.639+82A>G rs11200922
NM_033100.4(CDHR1):c.863-1G>A rs886041900
NM_033100.4(CDHR1):c.950_958del (p.Glu317_His319del) rs2492510854

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