List of variants in gene SPINK5 reported as likely pathogenic

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: 24

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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.2423C>T (p.Thr808Ile)	rs1212676320	0.00001
NM_006846.4(SPINK5):c.2441+1G>A	rs1561701382	0.00001
NM_006846.4(SPINK5):c.2666+1G>A	rs1754362343	0.00001
NM_006846.4(SPINK5):c.2740-1G>C	rs1057518067	0.00001
NM_006846.4(SPINK5):c.81+5G>A	rs771730802	0.00001
NM_006846.4(SPINK5):c.1280del (p.Ser427fs)	rs1753640069
NM_006846.4(SPINK5):c.1430+1G>T	rs1309309448
NM_006846.4(SPINK5):c.1431-12G>A	rs368134354
NM_006846.4(SPINK5):c.1480-2A>G	rs773865874
NM_006846.4(SPINK5):c.1682A>G (p.Glu561Gly)	rs1753847242
NM_006846.4(SPINK5):c.2015+1G>T
NM_006846.4(SPINK5):c.2015+5G>A
NM_006846.4(SPINK5):c.209+1G>A	rs1752708600
NM_006846.4(SPINK5):c.210-2A>C
NM_006846.4(SPINK5):c.2113-2A>G
NM_006846.4(SPINK5):c.2264del (p.Asn755fs)
NM_006846.4(SPINK5):c.2441+3_2441+6del	rs1221030255
NM_006846.4(SPINK5):c.2739+1G>T
NM_006846.4(SPINK5):c.2965-1G>A
NM_006846.4(SPINK5):c.3095+2T>C
NM_006846.4(SPINK5):c.602+1G>T
NM_006846.4(SPINK5):c.715dup (p.Cys239fs)
NM_006846.4(SPINK5):c.817_818del (p.Asn273fs)	rs761490126

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