ClinVar Miner

List of variants reported as pathogenic for Hermansky-Pudlak syndrome without pulmonary fibrosis

Included ClinVar conditions (3):
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Total variants: 41
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HGVS dbSNP
11p15.1 deletion
HPS3, 89-BP INS
NM_007216.4(HPS5):c.1081del (p.Leu361fs) rs766602179
NM_007216.4(HPS5):c.1558del (p.Glu520fs) rs1131692146
NM_007216.4(HPS5):c.1684_1687del (p.Val562fs) rs281865103
NM_007216.4(HPS5):c.2282del (p.Leu761fs) rs281865105
NM_007216.4(HPS5):c.2406_2407AG[1] (p.Glu803fs) rs1131692151
NM_007216.4(HPS5):c.2586_2587dup (p.Thr863fs) rs397507169
NM_007216.4(HPS5):c.2637_2640del (p.Cys879fs) rs886041723
NM_007216.4(HPS5):c.2754_2756del (p.Leu919del) rs753928208
NM_007216.4(HPS5):c.476_480del (p.Thr159fs) rs1131692147
NM_007216.4(HPS5):c.537dup (p.Lys180fs) rs281865101
NM_024747.5(HPS6):c.1065dup (p.Leu356fs) rs1564899492
NM_024747.5(HPS6):c.1234C>T (p.Gln412Ter) rs281865112
NM_024747.5(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024747.5(HPS6):c.1714_1717del (p.Leu572fs) rs281865113
NM_024747.5(HPS6):c.1865_1866del (p.Leu622fs) rs281865114
NM_024747.5(HPS6):c.1898del (p.Pro633fs) rs1131692332
NM_024747.5(HPS6):c.2038C>T (p.Gln680Ter) rs1131692333
NM_024747.5(HPS6):c.223C>T (p.Gln75Ter) rs281865107
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.5(HPS6):c.815C>T (p.Thr272Ile) rs281865109
NM_024747.5(HPS6):c.913C>T (p.Gln305Ter) rs281865110
NM_032383.5(HPS3):c.0_217+692del
NM_032383.5(HPS3):c.1163+1G>A rs201227603
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316
NM_032383.5(HPS3):c.1691+2T>G rs281865093
NM_032383.5(HPS3):c.2482-2A>G rs397507168
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_032383.5(HPS3):c.2888-1612G>A rs281865096
NM_181507.1(HPS5):c.107del (p.Lys36fs) rs1554948134
NM_181507.1(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
NM_181507.1(HPS5):c.1871T>G (p.Leu624Arg) rs281865102
NM_181507.1(HPS5):c.219G>A (p.Arg73=) rs1131692150
NM_181507.1(HPS5):c.2219T>C (p.Leu740Ser) rs1131692149
NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter) rs281865104
NM_181507.1(HPS5):c.285-10A>G rs200449378
NM_181507.1(HPS5):c.3058+3A>G rs113304476
NM_181507.1(HPS5):c.719G>C (p.Arg240Pro) rs764296457
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288
nsv1067844

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