ClinVar Miner

List of variants reported as likely benign for Hermansky-Pudlak syndrome 9

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ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_012388.4(BLOC1S6):c.82+10A>G rs370370639 0.00235
NM_012388.4(BLOC1S6):c.252A>T (p.Thr84=) rs114872740 0.00047
NM_012388.4(BLOC1S6):c.51C>G (p.Pro17=) rs150470765 0.00017
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.72G>A (p.Glu24=) rs768535324 0.00004
NM_012388.4(BLOC1S6):c.210C>T (p.Ala70=) rs761132701 0.00002
NM_012388.4(BLOC1S6):c.144A>T (p.Ala48=) rs372182517 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.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.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
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.171T>C (p.Leu57=)
NM_012388.4(BLOC1S6):c.174T>A (p.Ser58=) rs2140904620
NM_012388.4(BLOC1S6):c.198A>G (p.Arg66=) rs1329457663
NM_012388.4(BLOC1S6):c.201A>C (p.Ser67=)
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.225-16T>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.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.309T>C (p.Ala103=)
NM_012388.4(BLOC1S6):c.312+17T>A
NM_012388.4(BLOC1S6):c.312+7A>G
NM_012388.4(BLOC1S6):c.313-7T>C
NM_012388.4(BLOC1S6):c.327A>G (p.Lys109=) rs2140918976
NM_012388.4(BLOC1S6):c.343T>C (p.Leu115=) rs2140919014
NM_012388.4(BLOC1S6):c.367C>T (p.Leu123=)
NM_012388.4(BLOC1S6):c.36C>T (p.Ala12=) rs1426071548
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.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.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.43C>A (p.Arg15=)
NM_012388.4(BLOC1S6):c.45G>A (p.Arg15=)
NM_012388.4(BLOC1S6):c.468G>A (p.Lys156=)
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.69G>C (p.Gly23=)
NM_012388.4(BLOC1S6):c.82+11T>C
NM_012388.4(BLOC1S6):c.82+14G>T
NM_012388.4(BLOC1S6):c.82+9_82+12del

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