ClinVar Miner

List of variants reported as likely benign for autonomic nervous system disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779 0.00466
NM_003924.4(PHOX2B):c.*60G>A rs558416040 0.00131
NM_003924.4(PHOX2B):c.639C>G (p.Gly213=) rs17879258 0.00039
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu) rs747626591 0.00013
NM_003924.4(PHOX2B):c.*18G>A rs776498322 0.00011
NM_003924.4(PHOX2B):c.*19C>A rs770841700 0.00011
NM_003924.4(PHOX2B):c.*12GCG[4] rs763380864
NM_003924.4(PHOX2B):c.*549dup rs201654270

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