ClinVar Miner

List of variants in gene PRICKLE1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_153026.3(PRICKLE1):c.-48-204G>A rs74781866 0.01560
NM_153026.3(PRICKLE1):c.133-75G>T rs77568691 0.01494
NM_153026.3(PRICKLE1):c.247-207A>T rs7952738 0.01251
NM_153026.3(PRICKLE1):c.1640-256C>G rs114719652 0.00947
NM_153026.3(PRICKLE1):c.588+61A>T rs114395641 0.00945
NM_153026.3(PRICKLE1):c.-48-10897G>A rs116954793 0.00746
NM_153026.3(PRICKLE1):c.132+180A>G rs60876833 0.00569
NM_153026.3(PRICKLE1):c.246+230C>T rs111539888 0.00552
NM_153026.3(PRICKLE1):c.132+57T>C rs73273986 0.00483
NM_153026.3(PRICKLE1):c.775+216G>A rs139412822 0.00447
NM_153026.3(PRICKLE1):c.775+48G>A rs201989621 0.00154
NM_153026.3(PRICKLE1):c.2193C>T (p.Tyr731=) rs137985321 0.00039
NM_153026.3(PRICKLE1):c.2439G>A (p.Arg813=) rs138524511 0.00022
NM_153026.3(PRICKLE1):c.60C>A (p.Ser20=) rs370960593 0.00013
NM_153026.3(PRICKLE1):c.480G>A (p.Thr160=) rs376385820 0.00011
NM_153026.3(PRICKLE1):c.-40G>A rs370363439 0.00009
NM_153026.3(PRICKLE1):c.2064T>C (p.Asn688=) rs199893979 0.00008
NM_153026.3(PRICKLE1):c.2194G>A (p.Gly732Arg) rs150287042 0.00007
NM_153026.3(PRICKLE1):c.1629C>T (p.Ser543=) rs748556304 0.00006
NM_153026.3(PRICKLE1):c.588+18C>T rs777295798 0.00005
NM_153026.3(PRICKLE1):c.-14A>G rs200066556 0.00003
NM_153026.3(PRICKLE1):c.1869G>A (p.Lys623=) rs150809651 0.00003
NM_153026.3(PRICKLE1):c.1985A>G (p.Asn662Ser) rs769599129 0.00003
NM_153026.3(PRICKLE1):c.2091C>T (p.Pro697=) rs756787066 0.00003
NM_153026.3(PRICKLE1):c.2265C>T (p.Tyr755=) rs148989635 0.00003
NM_153026.3(PRICKLE1):c.246+7T>C rs1370173390 0.00003
NM_153026.3(PRICKLE1):c.1359C>T (p.Thr453=) rs772484365 0.00002
NM_153026.3(PRICKLE1):c.1497A>G (p.Glu499=) rs774825872 0.00001
NM_153026.3(PRICKLE1):c.1563G>A (p.Leu521=) rs758126980 0.00001
NM_153026.3(PRICKLE1):c.2178G>A (p.Gln726=) rs1332245067 0.00001
NM_153026.3(PRICKLE1):c.2310C>T (p.Ser770=) rs529575327 0.00001
NM_153026.3(PRICKLE1):c.36G>A (p.Leu12=) rs1162360044 0.00001
NM_153026.3(PRICKLE1):c.-48-137G>T rs113411095
NM_153026.3(PRICKLE1):c.133-16A>C rs1057521443
NM_153026.3(PRICKLE1):c.1640-11C>T rs1057521602
NM_153026.3(PRICKLE1):c.1640-234CAAAA[2] rs202051844
NM_153026.3(PRICKLE1):c.2127T>C (p.Tyr709=) rs1057521749
NM_153026.3(PRICKLE1):c.2205C>T (p.Ala735=) rs1057523106
NM_153026.3(PRICKLE1):c.588+10del rs766626651
NM_153026.3(PRICKLE1):c.588+17C>A rs1057522279
NM_153026.3(PRICKLE1):c.684G>A (p.Gln228=) rs1555230332
NM_153026.3(PRICKLE1):c.775+19C>T rs1057520855
NM_153026.3(PRICKLE1):c.775+9_775+18del rs769446547

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