ClinVar Miner

List of variants in gene BBS10 reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702 0.00560
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val) rs139719799 0.00167
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_024685.4(BBS10):c.1545T>C (p.Asp515=) rs77565309 0.00093
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761 0.00058
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr) rs150587582 0.00041
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu) rs149596527 0.00040
NM_024685.4(BBS10):c.957T>C (p.Val319=) rs139645096 0.00039
NM_024685.4(BBS10):c.752C>T (p.Ala251Val) rs149760791 0.00034
NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser) rs142140276 0.00018
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878 0.00014
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys) rs142297424 0.00011
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823 0.00010
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile) rs199878555 0.00009
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln) rs138961848 0.00008
NM_024685.4(BBS10):c.1629C>T (p.Asn543=) rs145124702 0.00008
NM_024685.4(BBS10):c.429T>C (p.Gly143=) rs146587757 0.00006
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012 0.00006
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val) rs753629989 0.00005
NM_024685.4(BBS10):c.1412A>T (p.Asp471Val) rs200718870 0.00004
NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg) rs1021050605 0.00004
NM_024685.4(BBS10):c.1548A>T (p.Thr516=) rs771662934 0.00004
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His) rs141647931 0.00004
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala) rs766733372 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp) rs774809155 0.00003
NM_024685.4(BBS10):c.1287T>C (p.Asp429=) rs771468663 0.00003
NM_024685.4(BBS10):c.1325C>T (p.Thr442Ile) rs780966013 0.00003
NM_024685.4(BBS10):c.1743G>A (p.Pro581=) rs150530553 0.00003
NM_024685.4(BBS10):c.198-3C>T rs779659204 0.00003
NM_024685.4(BBS10):c.462G>A (p.Leu154=) rs764687344 0.00003
NM_024685.4(BBS10):c.908G>C (p.Ser303Thr) rs1160564103 0.00003
NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr) rs373626588 0.00002
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu) rs762432475 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe) rs775492103 0.00001
NM_024685.4(BBS10):c.1211A>G (p.His404Arg) rs964776134 0.00001
NM_024685.4(BBS10):c.1234G>C (p.Asp412His) rs1413288461 0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575 0.00001
NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly) rs933207351 0.00001
NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter) rs1356713858 0.00001
NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys) rs758489303 0.00001
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732 0.00001
NM_024685.4(BBS10):c.2004T>G (p.Asn668Lys) rs778614911 0.00001
NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp) rs756069503 0.00001
NM_024685.4(BBS10):c.2142T>G (p.Val714=) rs1463359253 0.00001
NM_024685.4(BBS10):c.2169A>G (p.Leu723=) rs1395342080 0.00001
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe) rs767638924 0.00001
NM_024685.4(BBS10):c.337A>G (p.Ile113Val) rs969686018 0.00001
NM_024685.4(BBS10):c.434T>C (p.Met145Thr) rs144312522 0.00001
NM_024685.4(BBS10):c.483A>G (p.Lys161=) rs748732850 0.00001
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly) rs775747309 0.00001
NM_024685.4(BBS10):c.607A>G (p.Thr203Ala) rs753138845 0.00001
NM_024685.4(BBS10):c.783A>G (p.Thr261=) rs768475584 0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081 0.00001
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del) rs750611000
NM_024685.4(BBS10):c.106G>T (p.Val36Phe) rs896544129
NM_024685.4(BBS10):c.1074G>A (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1092C>T (p.Asn364=) rs1951763479
NM_024685.4(BBS10):c.1126C>G (p.Leu376Val) rs11109474
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu) rs775492103
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.1181C>A (p.Pro394Gln) rs1951762690
NM_024685.4(BBS10):c.1185C>G (p.His395Gln) rs863224793
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr) rs1951762170
NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys) rs1022090476
NM_024685.4(BBS10):c.1418T>A (p.Val473Asp) rs763473990
NM_024685.4(BBS10):c.1457A>T (p.Tyr486Phe) rs1429011304
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter) rs898539189
NM_024685.4(BBS10):c.1530A>G (p.Thr510=) rs1951758841
NM_024685.4(BBS10):c.1602T>G (p.Thr534=) rs750402316
NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp) rs770880993
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter) rs1565809478
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.1684T>C (p.Leu562=) rs111773727
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter) rs1565809409
NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg) rs1951755649
NM_024685.4(BBS10):c.1865A>G (p.His622Arg) rs1453149575
NM_024685.4(BBS10):c.209A>G (p.Asp70Gly) rs529208223
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.2157A>G (p.Ser719=) rs1951752945
NM_024685.4(BBS10):c.2167C>T (p.Leu723=) rs1003705267
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.397C>T (p.Leu133Phe) rs750446869
NM_024685.4(BBS10):c.39_46del (p.Ala14fs) rs1555202806
NM_024685.4(BBS10):c.55G>C (p.Glu19Gln) rs1001512051
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala) rs781723681
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308

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