List of variants reported as likely pathogenic for Bardet-Biedl syndrome 12 by Fulgent Genetics, Fulgent Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)	rs138011813	0.00020
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)	rs1381368546	0.00001
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)	rs1269565757	0.00001
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter)	rs1194574169	0.00001
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter)	rs745448288	0.00001
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs)	rs770872200	0.00001
NM_152618.3(BBS12):c.1095_1096del (p.Asn366fs)	rs2150736865
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs)	rs1553941391
NM_152618.3(BBS12):c.1151del (p.Ser384fs)	rs1553941404
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs)	rs766741204
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)	rs2150737598
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)	rs1560708847
NM_152618.3(BBS12):c.424dup (p.Asp142fs)	rs1553941258
NM_152618.3(BBS12):c.869_873del (p.Val290fs)	rs1283655166

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