ClinVar Miner

List of variants in gene PNPLA6 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.3914-25C>T rs558233 0.03135
NM_001166114.2(PNPLA6):c.3094-105C>T rs485232 0.01893
NM_001166114.2(PNPLA6):c.1609-34G>T rs115992487 0.01392
NM_001166114.2(PNPLA6):c.2260+93G>A rs114731788 0.01373
NM_001166114.2(PNPLA6):c.2260+147G>A rs111682764 0.01329
NM_001166114.2(PNPLA6):c.1253-158T>C rs115263133 0.01294
NM_001166114.2(PNPLA6):c.924+134T>C rs185417896 0.01281
NM_001166114.2(PNPLA6):c.414-213C>T rs10419250 0.01280
NM_001166114.2(PNPLA6):c.2260+56T>C rs190644191 0.01095
NM_001166114.2(PNPLA6):c.3094-5C>T rs116788699 0.01066
NM_001166114.2(PNPLA6):c.2070+34T>C rs114833083 0.00964
NM_001166114.2(PNPLA6):c.1168+125C>T rs111585020 0.00794
NM_001166114.2(PNPLA6):c.233-76T>C rs73921451 0.00794
NM_001166114.2(PNPLA6):c.795+76A>T rs74912258 0.00632
NM_006702.5(PNPLA6):c.-43+215A>T rs112541066 0.00602
NM_001166114.2(PNPLA6):c.*79C>G rs144903832 0.00597
NM_001166114.2(PNPLA6):c.3817-28del rs199585191 0.00546
NM_001166114.2(PNPLA6):c.2261-79A>G rs113123206 0.00523
NM_001166114.2(PNPLA6):c.3700-155G>A rs115227024 0.00436
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.3280+129G>A rs114084348 0.00372
NM_001166114.2(PNPLA6):c.1005+14G>A rs190321280 0.00371
NM_006702.5(PNPLA6):c.-43+3G>A rs185247203 0.00274
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.2261-47T>C rs76701076 0.00103
NM_001166114.2(PNPLA6):c.315+13C>T rs200676307 0.00094
NM_001166114.2(PNPLA6):c.1530+11G>A rs184998637 0.00087
NM_001166114.2(PNPLA6):c.3912C>T (p.Asp1304=) rs149871062 0.00087
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=) rs138837774 0.00064
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=) rs138023728 0.00061
NM_001166114.2(PNPLA6):c.3914-11C>T rs371325894 0.00058
NM_001166114.2(PNPLA6):c.3699+17G>A rs141831508 0.00026
NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=) rs553088930 0.00023
NM_001166114.2(PNPLA6):c.2818-4C>T rs533705093 0.00019
NM_001166114.2(PNPLA6):c.796-11C>T rs758381371 0.00010
NM_001166114.2(PNPLA6):c.3606A>G (p.Leu1202=) rs200234059 0.00005
NM_001166114.2(PNPLA6):c.1626C>T (p.Phe542=) rs778970098 0.00004
NM_001166114.2(PNPLA6):c.3280+12C>T rs201782128 0.00004
NM_001166114.2(PNPLA6):c.2185-15C>T rs780822241 0.00003
NM_001166114.2(PNPLA6):c.232+14G>A rs199727584 0.00003
NM_001166114.2(PNPLA6):c.3105G>A (p.Ser1035=) rs779667737 0.00002
NM_001166114.2(PNPLA6):c.3281-7C>T rs762489747 0.00001
NM_001166114.2(PNPLA6):c.315+84G>A rs146661810
NM_001166114.2(PNPLA6):c.3398-99del rs201915883
NM_001166114.2(PNPLA6):c.3699+221A>G rs146280504
NM_001166114.2(PNPLA6):c.714+77G>T rs10405345
NM_001166114.2(PNPLA6):c.924+123G>C rs140157839
NM_001166114.2(PNPLA6):c.925-12C>T rs370904772

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