ClinVar Miner

List of variants in gene PNPLA6 reported as benign for hereditary spastic paraplegia 39

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.2465+41C>G rs534464 0.79112
NM_001166114.2(PNPLA6):c.2634+39T>C rs599330 0.76480
NM_001166114.2(PNPLA6):c.1362+8T>C rs620744 0.68799
NM_001166114.2(PNPLA6):c.3398-36G>A rs535208 0.58035
NM_001166114.2(PNPLA6):c.2260+24G>A rs473899 0.50240
NM_001166114.2(PNPLA6):c.3280+38C>T rs489056 0.47937
NM_001166114.2(PNPLA6):c.3699+41C>T rs538850 0.41358
NM_001166114.2(PNPLA6):c.2818-19A>G rs563826 0.35658
NM_001166114.2(PNPLA6):c.2635-19A>C rs539887 0.35604
NM_001166114.2(PNPLA6):c.1253-6C>T rs574930 0.32237
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=) rs8107538 0.26133
NM_001166114.2(PNPLA6):c.3699+42G>A rs538852 0.24937
NM_001166114.2(PNPLA6):c.3210+20T>G rs45505598 0.16710
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645 0.16605
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=) rs591040 0.07584
NM_001166114.2(PNPLA6):c.2547G>A (p.Ser849=) rs522776 0.03285
NM_001166114.2(PNPLA6):c.2071-15C>T rs7250363 0.03172
NM_001166114.2(PNPLA6):c.1252+17C>A rs117630756 0.02222
NM_001166114.2(PNPLA6):c.2706C>T (p.Gly902=) rs113264142 0.01159
NM_001166114.2(PNPLA6):c.3094-5C>T rs116788699 0.01066
NM_001166114.2(PNPLA6):c.1704C>G (p.Pro568=) rs62111288 0.00930
NM_001166114.2(PNPLA6):c.3603G>A (p.Gln1201=) rs112133109 0.00930
NM_001166114.2(PNPLA6):c.555-20G>A rs183762415 0.00880
NM_001166114.2(PNPLA6):c.2133G>A (p.Leu711=) rs113335442 0.00745
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162 0.00490
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932 0.00466
NM_001166114.2(PNPLA6):c.4073C>T (p.Pro1358Leu) rs116012798 0.00451
NM_001166114.2(PNPLA6):c.414-18C>T rs149630061 0.00421
NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=) rs34030828 0.00408
NM_001166114.2(PNPLA6):c.1005+14G>A rs190321280 0.00371
NM_001166114.2(PNPLA6):c.2937-6C>T rs200932494 0.00214
NM_001166114.2(PNPLA6):c.4060C>T (p.Leu1354=) rs150392453 0.00202
NM_001166114.2(PNPLA6):c.3234C>T (p.Asn1078=) rs148831568 0.00174
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230 0.00160
NM_001166114.2(PNPLA6):c.2385C>T (p.His795=) rs143914980 0.00136
NM_001166114.2(PNPLA6):c.315+13C>T rs200676307 0.00094
NM_001166114.2(PNPLA6):c.1485C>T (p.Ile495=) rs199903577 0.00089
NM_001166114.2(PNPLA6):c.1530+11G>A rs184998637 0.00087
NM_001166114.2(PNPLA6):c.3914-11C>T rs371325894 0.00058
NM_001166114.2(PNPLA6):c.171A>C (p.Gly57=) rs140825810 0.00046
NM_001166114.2(PNPLA6):c.162C>T (p.Ile54=) rs200310048 0.00036
NM_001166114.2(PNPLA6):c.316-18C>T rs530792429 0.00027
NM_001166114.2(PNPLA6):c.3699+17G>A rs141831508 0.00026
NM_001166114.2(PNPLA6):c.4024-13C>T rs78093267 0.00020
NM_001166114.2(PNPLA6):c.2818-4C>T rs533705093 0.00019
NM_001166114.2(PNPLA6):c.714+6T>G rs368637145 0.00018
NM_001166114.2(PNPLA6):c.1488C>T (p.Phe496=) rs151146154 0.00016
NM_001166114.2(PNPLA6):c.2922C>A (p.Gly974=) rs767028461 0.00015
NM_001166114.2(PNPLA6):c.1398C>T (p.Gly466=) rs146463717 0.00014
NM_001166114.2(PNPLA6):c.1680C>T (p.Asp560=) rs761103593 0.00011
NM_001166114.2(PNPLA6):c.2712C>T (p.Gly904=) rs748031664 0.00006
NM_001166114.2(PNPLA6):c.3549T>C (p.Val1183=) rs35770729 0.00006
NM_001166114.2(PNPLA6):c.976C>T (p.Leu326=) rs559393431 0.00005
NM_001166114.2(PNPLA6):c.232+14G>A rs199727584 0.00003
NM_001166114.2(PNPLA6):c.4024-11T>G rs752929790 0.00002
NM_001166114.2(PNPLA6):c.1203C>A (p.Pro401=) rs546470199 0.00001
NM_001166114.2(PNPLA6):c.2817+17C>T rs777558728 0.00001
NM_001166114.2(PNPLA6):c.1253-14del rs1318985494
NM_001166114.2(PNPLA6):c.2415C>T (p.Leu805=) rs535490318
NM_001166114.2(PNPLA6):c.2466-13del
NM_001166114.2(PNPLA6):c.2466-13dup rs2146101488
NM_001166114.2(PNPLA6):c.2634+38G>C rs599328
NM_001166114.2(PNPLA6):c.2817+21del
NM_001166114.2(PNPLA6):c.3094-11dup rs2146107854
NM_001166114.2(PNPLA6):c.3398-12del rs780867273
NM_001166114.2(PNPLA6):c.3492G>C (p.Leu1164=) rs577065342
NM_001166114.2(PNPLA6):c.3913+23del rs11307097
NM_001166114.2(PNPLA6):c.3913+23dup rs11307097
NM_001166114.2(PNPLA6):c.925-12C>T rs370904772

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