ClinVar Miner

List of variants reported as benign for complex neurodevelopmental disorder by Athena Diagnostics Inc

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2947-41C>T rs7601520 0.73875
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_139058.3(ARX):c.1347C>T (p.Gly449=) rs75489697 0.01993
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=) rs16044 0.01420
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=) rs1800039 0.00699
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_001127222.2(CACNA1A):c.1345+7C>T rs192536793 0.00213

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