List of variants in gene IGHMBP2 reported by Service de Pédiatrie - Neurologie et infectiologie - Toulouse, CHU de Toulouse - Hôpital des Enfants

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_002180.3(IGHMBP2):c.1537+88G>A	rs1555247438	0.00001
NM_002180.3(IGHMBP2):c.547+1G>A	rs1057518588	0.00001
NM_002180.3(IGHMBP2):c.1418+1G>C	rs1160978570
NM_002180.3(IGHMBP2):c.1720G>A (p.Ala574Thr)	rs1378524388
NM_002180.3(IGHMBP2):c.200T>C (p.Phe67Ser)	rs1555242247

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