ClinVar Miner

List of variants in gene combination BBS1, ZDHHC24 reported as uncertain significance for Bardet-Biedl syndrome

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Total variants: 39
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HGVS dbSNP
NM_024649.5(BBS1):c.*562_*563dup rs886048529
NM_024649.5(BBS1):c.1016A>T (p.His339Leu) rs1389335279
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp)
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu)
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp) rs752299442
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln) rs758139447
NM_024649.5(BBS1):c.1155C>G (p.Asp385Glu)
NM_024649.5(BBS1):c.1178G>A (p.Arg393Gln) rs772235333
NM_024649.5(BBS1):c.1243G>A (p.Val415Met)
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr)
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser) rs755782127
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu)
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631
NM_024649.5(BBS1):c.1378C>T (p.Arg460Cys)
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys) rs374706769
NM_024649.5(BBS1):c.1534C>A (p.Arg512Ser)
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304
NM_024649.5(BBS1):c.1565T>C (p.Leu522Pro)
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala) rs1316472200
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu)
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp) rs770105141
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu)
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln)
NM_024649.5(BBS1):c.1737T>G (p.Ser579Arg)
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) rs111358560
NM_024649.5(BBS1):c.1762G>A (p.Glu588Lys) rs761304709
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val) rs144492051
NM_024649.5(BBS1):c.725T>C (p.Met242Thr)
NM_024649.5(BBS1):c.726G>A (p.Met242Ile) rs773588060
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu)
NM_024649.5(BBS1):c.739G>A (p.Val247Ile)
NM_024649.5(BBS1):c.751C>G (p.Leu251Val)
NM_024649.5(BBS1):c.771T>G (p.Phe257Leu)
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu) rs372939761
NM_024649.5(BBS1):c.877G>A (p.Val293Met) rs769422545
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr) rs145094101
NM_024649.5(BBS1):c.901G>A (p.Val301Ile)

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