List of variants in gene combination IGHMBP2, LOC126861245 reported by Ambry Genetics

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val)	rs140221316	0.00124
NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=)	rs150549628	0.00062
NM_002180.3(IGHMBP2):c.1581C>T (p.Asp527=)	rs149736203	0.00038
NM_002180.3(IGHMBP2):c.1632+4C>T	rs775832239	0.00005
NM_002180.3(IGHMBP2):c.1546C>T (p.Arg516Cys)	rs757425203	0.00004
NM_002180.3(IGHMBP2):c.1560G>T (p.Leu520Phe)	rs375645505	0.00003
NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His)	rs369816416	0.00003
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys)	rs137852665	0.00001
NM_002180.3(IGHMBP2):c.1561C>T (p.His521Tyr)	rs759965718	0.00001
NM_002180.3(IGHMBP2):c.1582G>A (p.Ala528Thr)	rs724159960	0.00001
NM_002180.3(IGHMBP2):c.1596C>T (p.Ala532=)	rs988590959	0.00001
NM_002180.3(IGHMBP2):c.1571C>G (p.Ala524Gly)	rs765910967
NM_002180.3(IGHMBP2):c.1587T>G (p.Gly529=)	rs886048604

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