ClinVar Miner

List of variants studied for combined dystonia by New York Genome Center

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr) rs782744167 0.00001
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His) rs767337086
NM_003919.3(SGCE):c.110-9608G>A rs2117037022
NM_006516.4(SLC2A1):c.18+5439G>T rs1570607542
NM_015488.5(PNKD):c.628C>A (p.His210Asn) rs886055620
NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr) rs1900084663

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