ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 22
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HGVS dbSNP gnomAD frequency
NM_052867.4(NALCN):c.515+7G>A rs41281142 0.01052
NM_052867.4(NALCN):c.2859C>T (p.Phe953=) rs34033086 0.00816
NM_052867.4(NALCN):c.2241C>T (p.Pro747=) rs79264337 0.00512
NM_052867.4(NALCN):c.4446+15T>C rs78312347 0.00484
NM_052867.4(NALCN):c.3735A>G (p.Ser1245=) rs111383689 0.00300
NM_052867.4(NALCN):c.4905+15C>T rs78026529 0.00297
NM_052867.4(NALCN):c.3138C>T (p.Cys1046=) rs114562583 0.00273
NM_052867.4(NALCN):c.1623G>A (p.Pro541=) rs115826662 0.00255
NM_052867.4(NALCN):c.2119-13T>C rs9518313 0.00218
NM_052867.4(NALCN):c.3270-4G>A rs199646798 0.00109
NM_052867.4(NALCN):c.516-12T>C rs182998660 0.00078
NM_052867.4(NALCN):c.1567A>G (p.Ile523Val) rs150580612 0.00060
NM_052867.4(NALCN):c.3843G>A (p.Thr1281=) rs151200877 0.00057
NM_052867.4(NALCN):c.2172C>T (p.Thr724=) rs79766279 0.00044
NM_052867.4(NALCN):c.1617G>A (p.Thr539=) rs773153499 0.00039
NM_052867.4(NALCN):c.2119-10T>C rs200497682 0.00029
NM_052867.4(NALCN):c.2457-4C>G rs200652639 0.00025
NM_052867.4(NALCN):c.4581C>T (p.Asp1527=) rs143067409 0.00016
NM_052867.4(NALCN):c.942+8G>A rs374004710 0.00006
NM_052867.4(NALCN):c.4104-11del rs113354194
NM_052867.4(NALCN):c.4104-19dup rs113354194
NM_052867.4(NALCN):c.4977C>T (p.Asp1659=) rs78817184

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