List of variants in gene ATP1A2 studied for Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies; Developmental and epileptic encephalopathy 98

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000702.4(ATP1A2):c.2943-15C>T	rs111510835	0.00350
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)	rs116711766	0.00071
NM_000702.4(ATP1A2):c.1262G>A (p.Arg421Gln)	rs139499540	0.00014
NM_000702.4(ATP1A2):c.1501G>A (p.Val501Met)	rs150465651	0.00003
NM_000702.4(ATP1A2):c.1550C>A (p.Thr517Asn)	rs749326394	0.00001
NM_000702.4(ATP1A2):c.1931G>A (p.Arg644Gln)	rs745824475	0.00001
NM_000702.4(ATP1A2):c.1859C>G (p.Thr620Arg)	rs1057521886
NM_000702.4(ATP1A2):c.2444C>G (p.Pro815Arg)
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg)	rs1553245857
NM_000702.4(ATP1A2):c.2935_2936delinsAA (p.Pro979Lys)
NM_000702.4(ATP1A2):c.36dup (p.Ala13fs)

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