List of variants in gene combination ATP1A2, LOC126805890 reported as uncertain significance for familial hemiplegic migraine

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_000702.4(ATP1A2):c.627T>C (p.Cys209=)	rs139229302	0.00005
NM_000702.4(ATP1A2):c.589G>A (p.Val197Ile)	rs540087535	0.00002
NM_000702.4(ATP1A2):c.736A>G (p.Asn246Asp)	rs764917849	0.00002
NM_000702.4(ATP1A2):c.529C>A (p.Gln177Lys)	rs372536727	0.00001
NM_000702.4(ATP1A2):c.586C>T (p.Arg196Cys)	rs753517155	0.00001
NM_000702.4(ATP1A2):c.673C>T (p.Arg225Cys)	rs757623691	0.00001
NM_000702.4(ATP1A2):c.748+3G>A	rs767929498	0.00001
NM_000702.4(ATP1A2):c.496-5C>G	rs1651512608
NM_000702.4(ATP1A2):c.496C>A (p.Gln166Lys)
NM_000702.4(ATP1A2):c.511C>T (p.Arg171Trp)
NM_000702.4(ATP1A2):c.512G>A (p.Arg171Gln)	rs1553244392
NM_000702.4(ATP1A2):c.520G>A (p.Glu174Lys)
NM_000702.4(ATP1A2):c.528G>T (p.Met176Ile)	rs867416764
NM_000702.4(ATP1A2):c.544G>A (p.Glu182Lys)
NM_000702.4(ATP1A2):c.547G>T (p.Val183Leu)
NM_000702.4(ATP1A2):c.554T>C (p.Val185Ala)
NM_000702.4(ATP1A2):c.568G>A (p.Glu190Lys)
NM_000702.4(ATP1A2):c.592C>A (p.Pro198Thr)
NM_000702.4(ATP1A2):c.607A>C (p.Ile203Leu)	rs1259959010
NM_000702.4(ATP1A2):c.619C>T (p.His207Tyr)	rs1057523810
NM_000702.4(ATP1A2):c.621T>A (p.His207Gln)	rs1048175233
NM_000702.4(ATP1A2):c.623G>A (p.Gly208Asp)
NM_000702.4(ATP1A2):c.631-10_631-4del
NM_000702.4(ATP1A2):c.631-6C>T	rs886045416
NM_000702.4(ATP1A2):c.633G>A (p.Val211=)	rs1054187251
NM_000702.4(ATP1A2):c.641C>T (p.Ser214Leu)
NM_000702.4(ATP1A2):c.650C>T (p.Thr217Ile)
NM_000702.4(ATP1A2):c.664C>T (p.Pro222Ser)	rs1570986069
NM_000702.4(ATP1A2):c.671C>T (p.Thr224Ile)	rs1230517801
NM_000702.4(ATP1A2):c.674G>A (p.Arg225His)	rs778741638
NM_000702.4(ATP1A2):c.682G>A (p.Glu228Lys)
NM_000702.4(ATP1A2):c.685T>G (p.Phe229Val)	rs1651546645
NM_000702.4(ATP1A2):c.694G>C (p.Glu232Gln)	rs775220854
NM_000702.4(ATP1A2):c.712C>T (p.Arg238Cys)	rs1558004341
NM_000702.4(ATP1A2):c.728T>A (p.Phe243Tyr)	rs1651548339
NM_000702.4(ATP1A2):c.742G>T (p.Val248Phe)	rs1651549443
NM_000702.4(ATP1A2):c.748+3G>T

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