ClinVar Miner

List of variants reported as pathogenic for pancreas disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter) rs397508387 0.00002
NM_000455.5(STK11):c.716G>A (p.Trp239Ter) rs730881975
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs) rs3034796
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn) rs397508198
NM_001042376.3(INS-IGF2):c.155C>T (p.Pro52Leu) rs145038693
NM_001370259.2(MEN1):c.371_372del (p.Val124fs) rs1555166368
NM_001370259.2(MEN1):c.654+1del rs1057518903

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