ClinVar Miner

List of variants reported as uncertain significance for long QT syndrome by Revvity Omics, Revvity

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.4163C>T (p.Ser1388Leu) rs143565222 0.00034
NM_005751.5(AKAP9):c.11360G>A (p.Arg3787Gln) rs199880764 0.00009
NM_005751.5(AKAP9):c.9689A>G (p.Lys3230Arg) rs192845338 0.00009
NM_005751.5(AKAP9):c.6518G>A (p.Arg2173Gln) rs749345540 0.00006
NM_005751.5(AKAP9):c.11291G>A (p.Arg3764Lys) rs146264747 0.00005
NM_005751.5(AKAP9):c.2609G>A (p.Cys870Tyr) rs187255726 0.00005
NM_005751.5(AKAP9):c.10196C>A (p.Thr3399Asn) rs758623712 0.00001
NM_005751.5(AKAP9):c.119G>A (p.Arg40Lys) rs755408339 0.00001
NM_003098.3(SNTA1):c.1487C>T (p.Ala496Val)
NM_003098.3(SNTA1):c.910-3C>T rs1989763108
NM_005751.5(AKAP9):c.3426T>C (p.Ala1142=) rs758236336
NM_005751.5(AKAP9):c.5669C>A (p.Thr1890Lys)
NM_005751.5(AKAP9):c.8458A>G (p.Ile2820Val)

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