List of variants in gene SPINK5 reported as pathogenic for B cell deficiency

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_006846.4(SPINK5):c.891C>T (p.Cys297=)	rs752941297	0.00004
NM_006846.4(SPINK5):c.1048C>T (p.Arg350Ter)	rs373463881	0.00003
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter)	rs777436361	0.00003
NM_006846.4(SPINK5):c.1302+4A>T	rs201269335	0.00002
NM_006846.4(SPINK5):c.81+2T>A	rs1131691490	0.00002
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter)	rs753621591	0.00001
NC_000005.9:g.(?_147443360)_(147484583_?)del
NC_000005.9:g.(?_147443608)_(147451803_?)del
NC_000005.9:g.(?_147443608)_(147484583_?)del
NC_000005.9:g.(?_147470708)_(147470811_?)del
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter)	rs924297783
NM_006846.4(SPINK5):c.1089T>G (p.Tyr363Ter)	rs752777832
NM_006846.4(SPINK5):c.1431-12G>A	rs368134354
NM_006846.4(SPINK5):c.153del (p.Gln52fs)	rs1752706120
NM_006846.4(SPINK5):c.1732C>T (p.Arg578Ter)	rs201674667
NM_006846.4(SPINK5):c.1816_1820+21delinsCT	rs1561695740
NM_006846.4(SPINK5):c.2264dup (p.Asn755fs)	rs748978134
NM_006846.4(SPINK5):c.2368C>T (p.Arg790Ter)	rs121908387
NM_006846.4(SPINK5):c.2468del (p.Lys823fs)	rs565782662
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs)	rs565782662
NM_006846.4(SPINK5):c.2471_2474del (p.Lys824fs)
NM_006846.4(SPINK5):c.283-2A>T	rs587777749
NM_006846.4(SPINK5):c.354_357del (p.Cys119fs)	rs1561680487
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter)	rs199757347
NM_006846.4(SPINK5):c.882+1_882+3del	rs750225476
NM_006846.4(SPINK5):c.995del (p.Met332fs)	rs1561686960

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