ClinVar Miner

List of variants reported as uncertain significance for autonomic nervous system disorder by OMIM

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_020975.6(RET):c.341G>A (p.Arg114His) rs76397662 0.00029
NM_001709.5(BDNF):c.5C>T (p.Thr2Ile) rs8192466
NM_004316.4(ASCL1):c.111_134del (p.Ala40_Ala47del) rs756714075
NM_004316.4(ASCL1):c.114_128del (p.Ala43_Ala47del) rs533680685
NM_004316.4(ASCL1):c.52C>A (p.Pro18Thr) rs267606667
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344

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