ClinVar Miner

Variants in gene CACNA1F 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: 17
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_001256789.3(CACNA1F):c.2764G>A (p.Gly922Ser) rs149685267 0.00086
NM_001256789.3(CACNA1F):c.904C>T (p.Arg302Cys) rs139612152 0.00032
NM_001256789.3(CACNA1F):c.3236+3G>A rs199932603 0.00019
NM_001256789.3(CACNA1F):c.761T>C (p.Ile254Thr) rs202029187 0.00018
NM_001256789.3(CACNA1F):c.3833G>A (p.Arg1278His) rs782330306 0.00014
NM_001256789.3(CACNA1F):c.5827G>A (p.Asp1943Asn) rs374663693 0.00009
NM_001256789.3(CACNA1F):c.1156G>A (p.Gly386Arg) rs782315613 0.00007
NM_001256789.3(CACNA1F):c.2777G>A (p.Arg926His) rs782092924 0.00005
NM_001256789.3(CACNA1F):c.5232G>A (p.Arg1744=) rs782598962 0.00005
NM_001256789.3(CACNA1F):c.91G>A (p.Gly31Arg) rs782426237 0.00005
NM_001256789.3(CACNA1F):c.209G>A (p.Arg70Gln) rs781923569 0.00003
NM_001256789.3(CACNA1F):c.5563G>A (p.Gly1855Ser) rs367608150 0.00003
NM_001256789.3(CACNA1F):c.2444G>T (p.Gly815Val) rs781938466 0.00002
NM_001256789.3(CACNA1F):c.5332C>T (p.Arg1778Cys) rs781892709 0.00002
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[2] (p.Glu812_Glu814del) rs59355923
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[4] (p.Glu812_Glu814dup) rs59355923

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