List of variants in gene IL6ST studied for B cell deficiency

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002184.4(IL6ST):c.442G>C (p.Gly148Arg)	rs2228044	0.21678
NM_002184.4(IL6ST):c.1549G>C (p.Ala517Pro)	rs1381682599	0.00004
NM_002184.4(IL6ST):c.2447A>G (p.Lys816Arg)	rs765498089	0.00001
NM_002184.4(IL6ST):c.658+6T>G	rs1161277926	0.00001
NM_002184.4(IL6ST):c.1210A>T (p.Asn404Tyr)	rs1580809257
NM_002184.4(IL6ST):c.1493C>T (p.Pro498Leu)	rs1580801731
NM_002184.4(IL6ST):c.1552+3A>C	rs1580801563
NM_002184.4(IL6ST):c.2121del (p.Asp707_Leu708insTer)	rs1750932254
NM_002184.4(IL6ST):c.2155dup (p.Ile719fs)	rs2111587824
NM_002184.4(IL6ST):c.2277T>G (p.Tyr759Ter)	rs2111585826
NM_002184.4(IL6ST):c.2277_2281dup (p.Thr761fs)	rs2111585708
NM_002184.4(IL6ST):c.560_571del (p.Ser187_Tyr190del)	rs2111774223
NM_002184.4(IL6ST):c.76G>A (p.Asp26Asn)

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