List of variants reported as pathogenic for Shukla-Vernon syndrome

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001379451.1(BCORL1):c.2459A>G (p.Asn820Ser)	rs398123004	0.00009
NM_001379451.1(BCORL1):c.2345T>A (p.Val782Glu)	rs1488781894	0.00001
NM_001379451.1(BCORL1):c.1487C>T (p.Ser496Phe)	rs1057521638
NM_001379451.1(BCORL1):c.95C>T (p.Pro32Leu)	rs1603105985

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