ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_052867.4(NALCN):c.4103+4G>C rs201402954 0.00078
NM_052867.4(NALCN):c.3843G>A (p.Thr1281=) rs151200877 0.00057
NM_052867.4(NALCN):c.2242G>A (p.Ala748Thr) rs77946954 0.00026
NM_052867.4(NALCN):c.722C>T (p.Pro241Leu) rs764444847 0.00023
NM_052867.4(NALCN):c.3058-11A>G rs201506269 0.00021
NM_052867.4(NALCN):c.1280T>C (p.Val427Ala) rs371662809 0.00011
NM_052867.4(NALCN):c.2266G>A (p.Val756Met) rs149203278 0.00011
NM_052867.4(NALCN):c.883C>T (p.Arg295Cys) rs372035044 0.00009
NM_052867.4(NALCN):c.5098G>A (p.Val1700Met) rs761894809 0.00007
NM_052867.4(NALCN):c.1765-6T>G rs370198465 0.00005
NM_052867.4(NALCN):c.2050A>T (p.Thr684Ser) rs751927717 0.00004
NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys) rs549182297 0.00003
NM_052867.4(NALCN):c.249G>A (p.Thr83=) rs145910377 0.00002
NM_052867.4(NALCN):c.3845C>T (p.Ser1282Leu) rs763353781 0.00002
NM_052867.4(NALCN):c.4466G>A (p.Arg1489His) rs149644813 0.00001
NM_052867.4(NALCN):c.1434+5T>C
NM_052867.4(NALCN):c.3852C>A (p.Gly1284=) rs772803115
NM_052867.4(NALCN):c.4977C>G (p.Asp1659Glu) rs78817184
NM_052867.4(NALCN):c.5127G>A (p.Ala1709=) rs111638537

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