ClinVar Miner

List of variants studied for autonomic nervous system disorder by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_001300860.2(DDX46):c.2819A>G (p.Asn940Ser) rs2150159210
NM_003924.4(PHOX2B):c.440A>G (p.Gln147Arg) rs2153112821
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup) rs771383153
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup) rs761018157

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