ClinVar Miner

List of variants in gene SPINK1 reported as likely pathogenic for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_001379610.1(SPINK1):c.190A>G (p.Asn64Asp) rs1261616345 0.00001
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu) rs369163833 0.00001
NM_001379610.1(SPINK1):c.162del (p.Asn56fs)
NM_001379610.1(SPINK1):c.165del (p.Asn56fs) rs1756441909
NM_001379610.1(SPINK1):c.55+1G>A
NM_001379610.1(SPINK1):c.55+1G>T rs1561606446
NM_001379610.1(SPINK1):c.93_101del (p.Lys31_Tyr33del) rs767903021

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