List of variants reported as likely pathogenic for Alagille syndrome by Invitae

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.1349-173_1483del
NM_000214.3(JAG1):c.1396-1G>A
NM_000214.3(JAG1):c.1569+1G>A
NM_000214.3(JAG1):c.1720+1G>C	rs2122607604
NM_000214.3(JAG1):c.2114-2A>C
NM_000214.3(JAG1):c.2458+2T>G	rs2122600427
NM_000214.3(JAG1):c.2683-1G>A
NM_000214.3(JAG1):c.2705G>C (p.Cys902Ser)	rs876661122
NM_000214.3(JAG1):c.2732G>A (p.Cys911Tyr)	rs1555827782
NM_000214.3(JAG1):c.2733C>G (p.Cys911Trp)	rs1411780867
NM_000214.3(JAG1):c.3048+2T>A
NM_000214.3(JAG1):c.387+1G>A
NM_000214.3(JAG1):c.438_439+2del	rs2122632102
NM_000214.3(JAG1):c.634T>C (p.Cys212Arg)	rs1555829660
NM_000214.3(JAG1):c.700T>A (p.Cys234Ser)	rs1555829415
NM_000214.3(JAG1):c.756-1G>C	rs1568798388
NM_000214.3(JAG1):c.806C>T (p.Pro269Leu)	rs797044956
NM_000214.3(JAG1):c.82-1G>C	rs2067508256
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser)	rs2122615095
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp)	rs28939668

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