ClinVar Miner

List of variants in gene ATP2B3 studied for X-linked disease

Included ClinVar conditions (313):
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Gene type:
ClinVar version:
Total variants: 10
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NM_001001344.2(ATP2B3):c.1473A>G (p.Gly491=) rs3020949
NM_001001344.2(ATP2B3):c.2326+11C>T rs3020957
NM_001001344.2(ATP2B3):c.2592G>C (p.Val864=) rs2269415
NM_001001344.2(ATP2B3):c.2839+14G>T rs3020959
NM_001001344.2(ATP2B3):c.3052-5C>T rs189012896
NM_001001344.2(ATP2B3):c.3284G>A (p.Arg1095Gln) rs782067205
NM_001001344.2(ATP2B3):c.3313T>A (p.Phe1105Ile) rs1569535623
NM_001001344.2(ATP2B3):c.3320G>A (p.Gly1107Asp) rs397514619
NM_001001344.2(ATP2B3):c.3518C>T (p.Ala1173Val) rs149428057
NM_001001344.2(ATP2B3):c.790+17G>C rs2980013

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