ClinVar Miner

List of variants in gene PRICKLE1 reported as benign

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_153026.3(PRICKLE1):c.1639+168G>C rs2600924 0.97057
NM_153026.3(PRICKLE1):c.385-119A>C rs2708062 0.96174
NM_153026.3(PRICKLE1):c.588+123C>G rs2708061 0.96170
NM_153026.3(PRICKLE1):c.*91T>C rs1043652 0.66849
NM_153026.3(PRICKLE1):c.247-248_247-247insG rs3217624 0.60988
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562 0.45408
NM_153026.3(PRICKLE1):c.132+313G>A rs1551210 0.33587
NM_153026.3(PRICKLE1):c.775+35T>C rs12230583 0.33216
NM_153026.3(PRICKLE1):c.246+247C>T rs3213989 0.32981
NM_153026.3(PRICKLE1):c.-49+129G>C rs2141929 0.32281
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563 0.32044
NM_153026.3(PRICKLE1):c.*261T>C rs1043656 0.29697
NM_153026.3(PRICKLE1):c.132+122T>C rs2305422 0.14561
NM_153026.3(PRICKLE1):c.384+81G>C rs67217830 0.12223
NM_153026.3(PRICKLE1):c.247-127C>T rs67128387 0.08485
NM_153026.3(PRICKLE1):c.-48-343C>T rs1037401 0.06692
NM_153026.3(PRICKLE1):c.-181G>A rs117521428 0.05613
NM_153026.3(PRICKLE1):c.-48-293C>T rs117438114 0.05309
NM_153026.3(PRICKLE1):c.1639+60A>C rs58707767 0.04485
NM_153026.3(PRICKLE1):c.133-289del rs139520280 0.03434
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=) rs74081707 0.03104
NM_153026.3(PRICKLE1):c.133-284G>A rs113774118 0.02133
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=) rs34778200 0.01220
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522 0.00701
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala) rs34837068 0.00631
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=) rs35854729 0.00598
NM_153026.3(PRICKLE1):c.-49+19C>T rs568399443 0.00501
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668 0.00498
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650 0.00376
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294 0.00302
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013 0.00149
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349 0.00121
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala) rs149496604 0.00075
NM_153026.3(PRICKLE1):c.775+20G>A rs190710237 0.00021
NM_153026.3(PRICKLE1):c.1647G>A (p.Ser549=) rs149518219 0.00011
NM_153026.3(PRICKLE1):c.471C>T (p.Val157=) rs201613485 0.00011
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=) rs146650383 0.00004
NM_153026.3(PRICKLE1):c.1869G>A (p.Lys623=) rs150809651 0.00003
NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=) rs727504104 0.00002
GRCh37/hg19 12q12(chr12:42856396-42912131)x3
GRCh37/hg19 12q12(chr12:42865874-42899909)x3
NM_153026.3(PRICKLE1):c.1639+3A>G rs550752320
NM_153026.3(PRICKLE1):c.373G>A (p.Val125Met)
NM_153026.3(PRICKLE1):c.588+10dup rs766626651

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