ClinVar Miner

List of variants in gene HID1 studied for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_030630.3(HID1):c.1297C>T (p.Arg433Trp) rs994473385 0.00001
NM_030630.3(HID1):c.2157T>G (p.Asp719Glu)
NM_030630.3(HID1):c.2318dup (p.Val774fs) rs2039300041
NM_030630.3(HID1):c.560G>A (p.Gly187Asp) rs2039494684
NM_030630.3(HID1):c.601G>A (p.Asp201Asn)

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