List of variants in gene SPINK5 reported as pathogenic 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_006846.4(SPINK5):c.1302+4A>T	rs201269335	0.00002
NM_006846.4(SPINK5):c.1431-12G>A	rs368134354
NM_006846.4(SPINK5):c.153del (p.Gln52fs)	rs1752706120
NM_006846.4(SPINK5):c.1816_1820+21delinsCT	rs1561695740
NM_006846.4(SPINK5):c.238dup (p.Ala80fs)	rs752179828
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs)	rs565782662
NM_006846.4(SPINK5):c.691del (p.Gln231fs)	rs1753397877

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