List of variants reported as pathogenic by Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter)	rs777701149	0.00001
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter)	rs137852831	0.00001
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)	rs28931584	0.00001
NM_000037.4(ANK1):c.1702-2A>C	rs1554567249
NM_000037.4(ANK1):c.1801-17G>A	rs786205243
NM_000037.4(ANK1):c.2098-1G>T	rs2150612992
NM_000037.4(ANK1):c.4098C>A (p.Cys1366Ter)	rs538989808
NM_000037.4(ANK1):c.5152C>T (p.Gln1718Ter)	rs1554522035
NM_000037.4(ANK1):c.534del (p.His178fs)	rs1554578304
NM_000342.4(SLC4A1):c.1458C>G (p.Tyr486Ter)	rs1555596072
NM_000342.4(SLC4A1):c.486-2A>G	rs1555596757
NM_001355436.2(SPTB):c.1331_1338del (p.Leu444fs)	rs1555370967
NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter)	rs1555369657
NM_001355436.2(SPTB):c.5623C>T (p.Gln1875Ter)	rs1555367359
NM_003126.4(SPTA1):c.3291G>A (p.Trp1097Ter)	rs1553231217

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