List of variants in gene SEMA3A studied for Kallmann syndrome

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_006080.3(SEMA3A):c.1303G>A (p.Val435Ile)	rs147436181	0.01250
NM_006080.3(SEMA3A):c.1000A>G (p.Ile334Val)	rs138694505	0.00671
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser)	rs139295139	0.00254
NM_006080.3(SEMA3A):c.1198A>G (p.Ile400Val)	rs36026860	0.00100
NM_006080.3(SEMA3A):c.2062A>G (p.Thr688Ala)	rs318240751	0.00013
NM_006080.3(SEMA3A):c.1372G>A (p.Val458Ile)	rs553661856	0.00004
NM_006080.3(SEMA3A):c.2198G>A (p.Arg733His)	rs318240753	0.00004
NM_006080.3(SEMA3A):c.1850G>A (p.Arg617Gln)	rs919402688	0.00001
GRCh37/hg19 7q21.11(chr7:83664877-83740076)
NM_006080.3(SEMA3A):c.1302_1303inv (p.Val435Ile)
NM_006080.3(SEMA3A):c.1450C>T (p.Arg484Trp)
NM_006080.3(SEMA3A):c.1613_1626del (p.Asp538fs)
NM_006080.3(SEMA3A):c.333+2T>C
NM_006080.3(SEMA3A):c.590G>A (p.Arg197Gln)	rs1404070020

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