List of variants in gene SRCAP reported as pathogenic for Floating-Harbor syndrome

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_006662.3(SRCAP):c.1319del
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter)	rs1555465891
NM_006662.3(SRCAP):c.7000C>T (p.Gln2334Ter)	rs587777656
NM_006662.3(SRCAP):c.7189G>T (p.Glu2397Ter)	rs2053169420
NM_006662.3(SRCAP):c.7215_7216del (p.Glu2405fs)
NM_006662.3(SRCAP):c.7218dup (p.Gln2407fs)	rs2151300039
NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter)
NM_006662.3(SRCAP):c.7287C>A (p.Cys2429Ter)	rs758972811
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)	rs199469465
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)	rs199469464
NM_006662.3(SRCAP):c.7549del (p.Gln2517fs)	rs199469466
NM_006662.3(SRCAP):c.7863dup (p.Gln2622fs)	rs587776938
NM_006662.3(SRCAP):c.7864C>T (p.Gln2622Ter)	rs2151300418
NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter)	rs587784444

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