ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 9 by Invitae

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ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_012388.4(BLOC1S6):c.34G>A (p.Ala12Thr) rs145762743 0.00306
NM_012388.4(BLOC1S6):c.82+10A>G rs370370639 0.00235
NM_012388.4(BLOC1S6):c.224+17C>A rs142188315 0.00126
NM_012388.4(BLOC1S6):c.252A>T (p.Thr84=) rs114872740 0.00047
NM_012388.4(BLOC1S6):c.79C>T (p.Pro27Ser) rs138284359 0.00031
NM_012388.4(BLOC1S6):c.51C>G (p.Pro17=) rs150470765 0.00017
NM_012388.4(BLOC1S6):c.125T>C (p.Leu42Ser) rs201461886 0.00016
NM_012388.4(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116 0.00009
NM_012388.4(BLOC1S6):c.318T>C (p.Ala106=) rs752899247 0.00009
NM_012388.4(BLOC1S6):c.82+6del rs779246428 0.00008
NM_012388.4(BLOC1S6):c.131T>C (p.Ile44Thr) rs374731803 0.00004
NM_012388.4(BLOC1S6):c.47C>T (p.Pro16Leu) rs1042113102 0.00004
NM_012388.4(BLOC1S6):c.72G>A (p.Glu24=) rs768535324 0.00004
NM_012388.4(BLOC1S6):c.130A>G (p.Ile44Val) rs564232908 0.00003
NM_012388.4(BLOC1S6):c.224C>T (p.Thr75Ile) rs768978261 0.00003
NM_012388.4(BLOC1S6):c.315T>G (p.Phe105Leu) rs759539185 0.00003
NM_012388.4(BLOC1S6):c.142G>T (p.Ala48Ser) rs200204287 0.00002
NM_012388.4(BLOC1S6):c.210C>T (p.Ala70=) rs761132701 0.00002
NM_012388.4(BLOC1S6):c.391A>G (p.Lys131Glu) rs1339131805 0.00002
NM_012388.4(BLOC1S6):c.103G>A (p.Asp35Asn) rs149605903 0.00001
NM_012388.4(BLOC1S6):c.115A>G (p.Ile39Val) rs779791657 0.00001
NM_012388.4(BLOC1S6):c.144A>T (p.Ala48=) rs372182517 0.00001
NM_012388.4(BLOC1S6):c.182T>G (p.Leu61Trp) rs1048656816 0.00001
NM_012388.4(BLOC1S6):c.186A>G (p.Pro62=) rs1209687570 0.00001
NM_012388.4(BLOC1S6):c.224+11A>G rs777210501 0.00001
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482 0.00001
NM_012388.4(BLOC1S6):c.264G>A (p.Glu88=) rs761723925 0.00001
NM_012388.4(BLOC1S6):c.282A>G (p.Glu94=) rs774700428 0.00001
NM_012388.4(BLOC1S6):c.313-9C>T rs765107661 0.00001
NM_012388.4(BLOC1S6):c.319G>A (p.Glu107Lys) rs1427586266 0.00001
NM_012388.4(BLOC1S6):c.335dup (p.His112fs) rs762974622 0.00001
NM_012388.4(BLOC1S6):c.350A>G (p.Asn117Ser) rs1230644464 0.00001
NM_012388.4(BLOC1S6):c.421C>T (p.Gln141Ter) rs759015758 0.00001
NM_012388.4(BLOC1S6):c.500G>C (p.Arg167Thr) rs770901442 0.00001
NM_012388.4(BLOC1S6):c.508A>G (p.Lys170Glu) rs760751818 0.00001
NM_012388.4(BLOC1S6):c.69G>A (p.Gly23=) rs774804135 0.00001
NM_012388.4(BLOC1S6):c.75G>A (p.Pro25=) rs1342184206 0.00001
NM_012388.4(BLOC1S6):c.82+8C>G rs1386198190 0.00001
NC_000015.9:g.(?_45879642)_(45898712_?)dup
NC_000015.9:g.(?_45884313)_(45898712_?)del
NM_012388.4(BLOC1S6):c.101C>G (p.Pro34Arg)
NM_012388.4(BLOC1S6):c.109G>C (p.Gly37Arg)
NM_012388.4(BLOC1S6):c.110G>A (p.Gly37Glu) rs1893910592
NM_012388.4(BLOC1S6):c.120G>A (p.Glu40=)
NM_012388.4(BLOC1S6):c.123C>T (p.Asp41=) rs2140904529
NM_012388.4(BLOC1S6):c.141A>G (p.Lys47=) rs2140904555
NM_012388.4(BLOC1S6):c.147G>A (p.Val49=)
NM_012388.4(BLOC1S6):c.14G>A (p.Gly5Glu) rs756977799
NM_012388.4(BLOC1S6):c.14G>T (p.Gly5Val) rs756977799
NM_012388.4(BLOC1S6):c.152A>G (p.Gln51Arg) rs1893913150
NM_012388.4(BLOC1S6):c.157G>A (p.Ala53Thr)
NM_012388.4(BLOC1S6):c.157del (p.Ala53fs)
NM_012388.4(BLOC1S6):c.171T>C (p.Leu57=)
NM_012388.4(BLOC1S6):c.174T>A (p.Ser58=) rs2140904620
NM_012388.4(BLOC1S6):c.187G>A (p.Asp63Asn) rs746059095
NM_012388.4(BLOC1S6):c.196A>G (p.Arg66Gly) rs1595552977
NM_012388.4(BLOC1S6):c.198A>G (p.Arg66=) rs1329457663
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.201A>C (p.Ser67=)
NM_012388.4(BLOC1S6):c.203_207del (p.Lys68fs)
NM_012388.4(BLOC1S6):c.205C>G (p.Gln69Glu) rs775671194
NM_012388.4(BLOC1S6):c.213C>T (p.Leu71=)
NM_012388.4(BLOC1S6):c.21G>A (p.Ser7=)
NM_012388.4(BLOC1S6):c.224+10T>C
NM_012388.4(BLOC1S6):c.224+15A>C
NM_012388.4(BLOC1S6):c.224+17C>T
NM_012388.4(BLOC1S6):c.224+18C>A rs2140904710
NM_012388.4(BLOC1S6):c.224+18C>G
NM_012388.4(BLOC1S6):c.225-13G>A rs1010778337
NM_012388.4(BLOC1S6):c.225-14_225-13insA rs1894325968
NM_012388.4(BLOC1S6):c.225-16T>C
NM_012388.4(BLOC1S6):c.225-17G>A
NM_012388.4(BLOC1S6):c.225-19C>T
NM_012388.4(BLOC1S6):c.225-4dup
NM_012388.4(BLOC1S6):c.240A>G (p.Val80=)
NM_012388.4(BLOC1S6):c.245T>A (p.Leu82Ter)
NM_012388.4(BLOC1S6):c.249C>T (p.Asp83=)
NM_012388.4(BLOC1S6):c.253C>T (p.Leu85=)
NM_012388.4(BLOC1S6):c.255G>A (p.Leu85=)
NM_012388.4(BLOC1S6):c.257A>G (p.Glu86Gly) rs2140916217
NM_012388.4(BLOC1S6):c.25C>T (p.Pro9Ser) rs1442888203
NM_012388.4(BLOC1S6):c.261dup (p.Glu88fs)
NM_012388.4(BLOC1S6):c.269C>T (p.Ser90Leu) rs1894328541
NM_012388.4(BLOC1S6):c.286C>T (p.His96Tyr) rs1595559213
NM_012388.4(BLOC1S6):c.289T>C (p.Ser97Pro) rs1274935670
NM_012388.4(BLOC1S6):c.296T>A (p.Leu99Ter)
NM_012388.4(BLOC1S6):c.309T>C (p.Ala103=)
NM_012388.4(BLOC1S6):c.312+17T>A
NM_012388.4(BLOC1S6):c.312+1G>T
NM_012388.4(BLOC1S6):c.312+7A>G
NM_012388.4(BLOC1S6):c.313-11dup
NM_012388.4(BLOC1S6):c.313-1G>A
NM_012388.4(BLOC1S6):c.313-3A>T rs1366252583
NM_012388.4(BLOC1S6):c.313-7T>C
NM_012388.4(BLOC1S6):c.327A>G (p.Lys109=) rs2140918976
NM_012388.4(BLOC1S6):c.330C>G (p.His110Gln) rs370118149
NM_012388.4(BLOC1S6):c.332A>G (p.Tyr111Cys)
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs) rs2140918991
NM_012388.4(BLOC1S6):c.33_34del (p.Ala12fs)
NM_012388.4(BLOC1S6):c.343T>C (p.Leu115=) rs2140919014
NM_012388.4(BLOC1S6):c.350A>T (p.Asn117Ile) rs1230644464
NM_012388.4(BLOC1S6):c.358A>C (p.Lys120Gln) rs2140919031
NM_012388.4(BLOC1S6):c.359_360del (p.Lys120fs)
NM_012388.4(BLOC1S6):c.367C>T (p.Leu123=)
NM_012388.4(BLOC1S6):c.36C>T (p.Ala12=) rs1426071548
NM_012388.4(BLOC1S6):c.382A>C (p.Lys128Gln)
NM_012388.4(BLOC1S6):c.384A>G (p.Lys128=)
NM_012388.4(BLOC1S6):c.387A>G (p.Thr129=) rs1188577933
NM_012388.4(BLOC1S6):c.399+10A>G
NM_012388.4(BLOC1S6):c.399+13T>A
NM_012388.4(BLOC1S6):c.399+14T>G rs2140919137
NM_012388.4(BLOC1S6):c.399+18dup
NM_012388.4(BLOC1S6):c.39G>A (p.Leu13=)
NM_012388.4(BLOC1S6):c.3G>A (p.Met1Ile) rs1242644356
NM_012388.4(BLOC1S6):c.400-13T>C
NM_012388.4(BLOC1S6):c.400-16T>A
NM_012388.4(BLOC1S6):c.400-17T>A
NM_012388.4(BLOC1S6):c.400-5C>T
NM_012388.4(BLOC1S6):c.400-6A>C
NM_012388.4(BLOC1S6):c.400-6dup rs1255019451
NM_012388.4(BLOC1S6):c.400-7A>G
NM_012388.4(BLOC1S6):c.400-8del
NM_012388.4(BLOC1S6):c.400-8dup rs373061008
NM_012388.4(BLOC1S6):c.408A>G (p.Ala136=)
NM_012388.4(BLOC1S6):c.408A>T (p.Ala136=) rs765691244
NM_012388.4(BLOC1S6):c.417G>A (p.Leu139=)
NM_012388.4(BLOC1S6):c.433A>G (p.Lys145Glu) rs1894463062
NM_012388.4(BLOC1S6):c.434A>G (p.Lys145Arg) rs1894463182
NM_012388.4(BLOC1S6):c.43C>A (p.Arg15=)
NM_012388.4(BLOC1S6):c.43C>T (p.Arg15Trp) rs141581736
NM_012388.4(BLOC1S6):c.452A>T (p.Glu151Val)
NM_012388.4(BLOC1S6):c.45G>A (p.Arg15=)
NM_012388.4(BLOC1S6):c.461G>A (p.Arg154Gln) rs145937442
NM_012388.4(BLOC1S6):c.468G>A (p.Lys156=)
NM_012388.4(BLOC1S6):c.469G>A (p.Glu157Lys) rs1253763397
NM_012388.4(BLOC1S6):c.491dup (p.Leu164fs) rs1350528661
NM_012388.4(BLOC1S6):c.501A>T (p.Arg167Ser) rs775510569
NM_012388.4(BLOC1S6):c.503C>T (p.Pro168Leu)
NM_012388.4(BLOC1S6):c.507C>T (p.Ala169=)
NM_012388.4(BLOC1S6):c.51C>T (p.Pro17=)
NM_012388.4(BLOC1S6):c.63G>A (p.Glu21=)
NM_012388.4(BLOC1S6):c.66C>T (p.Ala22=)
NM_012388.4(BLOC1S6):c.68G>A (p.Gly23Glu)
NM_012388.4(BLOC1S6):c.69G>C (p.Gly23=)
NM_012388.4(BLOC1S6):c.7_22dup (p.Ser8fs)
NM_012388.4(BLOC1S6):c.82+11T>C
NM_012388.4(BLOC1S6):c.82+14G>T
NM_012388.4(BLOC1S6):c.82+17G>A
NM_012388.4(BLOC1S6):c.82+1G>A
NM_012388.4(BLOC1S6):c.82+1G>T
NM_012388.4(BLOC1S6):c.82+1_82+8del
NM_012388.4(BLOC1S6):c.82+4C>G
NM_012388.4(BLOC1S6):c.82+9_82+12del
NM_012388.4(BLOC1S6):c.82G>C (p.Gly28Arg)
NM_012388.4(BLOC1S6):c.88A>C (p.Ser30Arg)
NM_012388.4(BLOC1S6):c.88del (p.Ser30fs)
NM_012388.4(BLOC1S6):c.89del (p.Ser30fs)

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