List of variants in gene IGHMBP2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser)	rs35610053	0.00181
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)	rs149824485	0.00108
NM_002180.3(IGHMBP2):c.1060+8G>T	rs201147313	0.00076
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)	rs148095551	0.00065
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met)	rs143986510	0.00049
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)	rs201692151	0.00044
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln)	rs147038490	0.00026
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His)	rs201640213	0.00019
NM_002180.3(IGHMBP2):c.440G>A (p.Arg147Gln)	rs138448914	0.00006
NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=)	rs373001247	0.00005
NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu)	rs370985388	0.00005
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=)	rs368775789	0.00004
NM_002180.3(IGHMBP2):c.217G>A (p.Gly73Arg)	rs376644749	0.00004
NM_002180.3(IGHMBP2):c.1814G>A (p.Arg605Gln)	rs141107419	0.00003
NM_002180.3(IGHMBP2):c.*4G>A	rs1555248762	0.00001
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser)	rs372477029	0.00001
NM_002180.3(IGHMBP2):c.-5C>T	rs765237978
NM_002180.3(IGHMBP2):c.1489G>T (p.Gly497Trp)	rs764111837
NM_002180.3(IGHMBP2):c.184C>G (p.Arg62Gly)	rs768631087
NM_002180.3(IGHMBP2):c.367G>A (p.Asp123Asn)	rs1004055119
NM_002180.3(IGHMBP2):c.66C>G (p.Asp22Glu)

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