ClinVar Miner

List of variants reported as benign for X-linked disease by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001001344.3(ATP2B3):c.790+17G>C rs2980013 0.99748
NM_001001344.3(ATP2B3):c.1473A>G (p.Gly491=) rs3020949 0.99114
NM_001001344.3(ATP2B3):c.2326+11C>T rs3020957 0.95109
NM_001555.5(IGSF1):c.948G>A (p.Val316=) rs5932877 0.91610
NM_001001344.3(ATP2B3):c.2839+14G>T rs3020959 0.88308
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_001555.5(IGSF1):c.1347A>G (p.Glu449=) rs1128617 0.48301
NM_001001344.3(ATP2B3):c.2592G>C (p.Val864=) rs2269415 0.41962
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_001555.5(IGSF1):c.2556T>C (p.Tyr852=) rs4830219 0.36154
NM_000074.3(CD40LG):c.410-13T>C rs3092923 0.27747
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_000074.3(CD40LG):c.148T>C (p.Leu50=) rs1126535 0.18453
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_001001344.3(ATP2B3):c.3052-5C>T rs189012896 0.00714
NM_007325.5(GRIA3):c.268+16757dup rs778944548

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