List of variants in gene combination IGHMBP2, LOC126861245 reported as likely benign for autosomal recessive disease

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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: 24

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HGVS	dbSNP	gnomAD frequency
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val)	rs140221316	0.00136
NM_002180.3(IGHMBP2):c.1538-19G>A	rs199911239	0.00002
NM_002180.3(IGHMBP2):c.1538-4C>G	rs757915735	0.00002
NM_002180.3(IGHMBP2):c.1596C>T (p.Ala532=)	rs988590959	0.00001
NM_002180.3(IGHMBP2):c.1614C>T (p.Val538=)	rs746241618	0.00001
NM_002180.3(IGHMBP2):c.1538-11_1538-8del	rs1566444289
NM_002180.3(IGHMBP2):c.1538-20C>G
NM_002180.3(IGHMBP2):c.1538-4C>T	rs757915735
NM_002180.3(IGHMBP2):c.1538-5T>G
NM_002180.3(IGHMBP2):c.1538-7C>A
NM_002180.3(IGHMBP2):c.1538-9T>A
NM_002180.3(IGHMBP2):c.1539C>G (p.Gly513=)	rs746624957
NM_002180.3(IGHMBP2):c.1539C>T (p.Gly513=)	rs746624957
NM_002180.3(IGHMBP2):c.1578G>A (p.Val526=)
NM_002180.3(IGHMBP2):c.1584T>G (p.Ala528=)	rs1461885178
NM_002180.3(IGHMBP2):c.1608T>A (p.Ala536=)
NM_002180.3(IGHMBP2):c.1617G>A (p.Ser539=)
NM_002180.3(IGHMBP2):c.1632+12T>C
NM_002180.3(IGHMBP2):c.1632+13C>T
NM_002180.3(IGHMBP2):c.1632+15T>A
NM_002180.3(IGHMBP2):c.1632+16T>G
NM_002180.3(IGHMBP2):c.1632+19G>A
NM_002180.3(IGHMBP2):c.1632+7G>A
NM_002180.3(IGHMBP2):c.1632+8G>A

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