List of variants in gene PRSS56 reported as likely benign for isolated microphthalmia 6

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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_001195129.2(PRSS56):c.1400G>T (p.Arg467Leu)	rs554826646	0.00130
NM_001195129.2(PRSS56):c.972C>A (p.Arg324=)	rs539085160	0.00034
NM_001195129.2(PRSS56):c.123G>A (p.Ala41=)	rs959302495	0.00007
NM_001195129.2(PRSS56):c.357G>A (p.Leu119=)	rs781427947	0.00007
NM_001195129.2(PRSS56):c.292G>A (p.Val98Met)	rs1025103437	0.00006
NM_001195129.2(PRSS56):c.606C>T (p.Ser202=)	rs372639355	0.00006
NM_001195129.2(PRSS56):c.462T>C (p.Leu154=)	rs1312714577	0.00001
NM_001195129.2(PRSS56):c.1012+8C>G
NM_001195129.2(PRSS56):c.1013-12C>T	rs1691336380
NM_001195129.2(PRSS56):c.108C>T (p.Ala36=)
NM_001195129.2(PRSS56):c.1091G>A (p.Arg364Gln)
NM_001195129.2(PRSS56):c.1187-17T>A
NM_001195129.2(PRSS56):c.1213C>T (p.Leu405=)
NM_001195129.2(PRSS56):c.1262T>G (p.Leu421Arg)	rs566840716
NM_001195129.2(PRSS56):c.1352-16C>A
NM_001195129.2(PRSS56):c.141G>A (p.Arg47=)
NM_001195129.2(PRSS56):c.144C>T (p.Ser48=)
NM_001195129.2(PRSS56):c.1464G>A (p.Gly488=)
NM_001195129.2(PRSS56):c.1797C>A (p.Pro599=)
NM_001195129.2(PRSS56):c.256+18C>T
NM_001195129.2(PRSS56):c.318G>T (p.Val106=)
NM_001195129.2(PRSS56):c.477G>C (p.Thr159=)
NM_001195129.2(PRSS56):c.517C>G (p.Pro173Ala)
NM_001195129.2(PRSS56):c.54C>T (p.His18=)
NM_001195129.2(PRSS56):c.753C>G (p.Leu251=)	rs1574623264
NM_001195129.2(PRSS56):c.97+19G>A

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