ClinVar Miner

List of variants in gene BBS7 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868 0.00025
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu) rs146412602 0.00023
NM_176824.3(BBS7):c.1097C>T (p.Ser366Phe) rs200373010 0.00020
NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu) rs375084239 0.00011
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021 0.00011
NM_176824.3(BBS7):c.917T>C (p.Val306Ala) rs373378747 0.00011
NM_176824.3(BBS7):c.191C>T (p.Pro64Leu) rs747055521 0.00009
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362 0.00006
NM_176824.3(BBS7):c.683G>A (p.Arg228His) rs369866009 0.00006
NM_176824.3(BBS7):c.601+3A>G rs747555346 0.00004
NM_176824.3(BBS7):c.1336C>T (p.Arg446Trp) rs768987725 0.00003
NM_176824.3(BBS7):c.1585C>T (p.Pro529Ser) rs771957843 0.00003
NM_176824.3(BBS7):c.1450C>T (p.Arg484Cys) rs747889031 0.00002
NM_176824.3(BBS7):c.442A>C (p.Asn148His) rs982037757 0.00002
NM_176824.3(BBS7):c.1069T>G (p.Leu357Val) rs906692940 0.00001
NM_176824.3(BBS7):c.1517T>C (p.Met506Thr) rs200788672 0.00001
NM_176824.3(BBS7):c.1574T>G (p.Val525Gly) rs746759579 0.00001
NM_176824.3(BBS7):c.1676+7C>G rs1247015446 0.00001
NM_176824.3(BBS7):c.1717A>G (p.Ile573Val) rs751029709 0.00001
NM_176824.3(BBS7):c.1916C>T (p.Thr639Met) rs773771144 0.00001
NM_176824.3(BBS7):c.1960G>C (p.Asp654His) rs143632090 0.00001
NM_176824.3(BBS7):c.1972G>A (p.Glu658Lys) rs1044486579 0.00001
NM_176824.3(BBS7):c.1996C>T (p.His666Tyr) rs1342336710 0.00001
NM_176824.3(BBS7):c.2012A>G (p.Tyr671Cys) rs1013002037 0.00001
NM_176824.3(BBS7):c.329G>A (p.Ser110Asn) rs775395171 0.00001
NM_176824.3(BBS7):c.479G>A (p.Arg160His) rs138270119 0.00001
NM_176824.3(BBS7):c.640G>A (p.Gly214Arg) rs1226167451 0.00001
NM_176824.3(BBS7):c.650C>T (p.Ala217Val) rs370510563 0.00001
NM_176824.3(BBS7):c.944C>T (p.Thr315Ile) rs1488474028 0.00001
NM_176824.3(BBS7):c.983C>A (p.Pro328Gln) rs778714139 0.00001
NM_176824.3(BBS7):c.1513C>T (p.Pro505Ser) rs763160690
NM_176824.3(BBS7):c.2106T>G (p.Ser702Arg) rs1229720963
NM_176824.3(BBS7):c.271A>G (p.Arg91Gly) rs1050167281
NM_176824.3(BBS7):c.302T>A (p.Leu101His) rs760863058
NM_176824.3(BBS7):c.340A>C (p.Met114Leu) rs142305911
NM_176824.3(BBS7):c.340A>G (p.Met114Val) rs142305911
NM_176824.3(BBS7):c.600C>A (p.Gly200=) rs370053625

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