List of variants in gene combination MVP-DT, PRRT2 reported as pathogenic for electroclinical syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_145239.3(PRRT2):c.880-34G>A	rs1239450803	0.00001
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val)	rs1301400509	0.00001
NM_145239.3(PRRT2):c.-65-1G>A	rs1900052727
NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter)
NM_145239.3(PRRT2):c.291del (p.Asn98fs)	rs730882073
NM_145239.3(PRRT2):c.397del (p.Glu133fs)
NM_145239.3(PRRT2):c.46G>T (p.Glu16Ter)
NM_145239.3(PRRT2):c.629del (p.Pro210fs)	rs730882067
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter)	rs77838305
NM_145239.3(PRRT2):c.649del (p.Arg217fs)	rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.650del (p.Arg217fs)	rs730882124
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)	rs387907126
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter)	rs397514579
NM_145239.3(PRRT2):c.879+5G>A	rs1596893185
NM_145239.3(PRRT2):c.971del (p.Gly324fs)	rs796052941

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