ClinVar Miner

Variants in gene CDHR1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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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.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.1461G>A (p.Gly487=) rs141787212 0.00145
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.408C>T (p.Ile136=) rs148125234 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.1320+4G>C rs370677921 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.1751C>T (p.Thr584Met) rs754321329 0.00014
NM_033100.4(CDHR1):c.784-3G>A rs201384219 0.00009
NM_033100.4(CDHR1):c.1554-3C>A rs377416569 0.00007
NM_033100.4(CDHR1):c.1471G>A (p.Val491Met) rs138638103 0.00006
NM_033100.4(CDHR1):c.833C>T (p.Pro278Leu) rs543254581 0.00002
NM_033100.4(CDHR1):c.152-12_152-11del rs767478332
NM_033100.4(CDHR1):c.159C>T (p.His53=) rs12781048

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