ClinVar Miner

List of variants in gene PRICKLE2 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673 0.98545
NM_198859.4(PRICKLE2):c.259-6A>G rs2306380 0.35289
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698 0.24032
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=) rs144455095 0.00228
NM_198859.4(PRICKLE2):c.1035C>G (p.Gly345=) rs34084584 0.00151
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile) rs139747674 0.00120
NM_198859.4(PRICKLE2):c.438G>A (p.Ala146=) rs149786687 0.00113
NM_198859.4(PRICKLE2):c.145-4T>G rs375489210 0.00073
NM_198859.4(PRICKLE2):c.445G>T (p.Ala149Ser) rs202025796 0.00013
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=) rs367680077 0.00012
NM_198859.4(PRICKLE2):c.2219C>T (p.Ser740Phe) rs760799226 0.00004
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser) rs771168722 0.00003
NM_198859.4(PRICKLE2):c.413A>G (p.Asn138Ser) rs1247504361 0.00001
NM_198859.4(PRICKLE2):c.1134G>T (p.Met378Ile) rs368695262
NM_198859.4(PRICKLE2):c.1220T>C (p.Met407Thr) rs908754452
NM_198859.4(PRICKLE2):c.1322T>A (p.Met441Lys) rs770462303
NM_198859.4(PRICKLE2):c.330C>G (p.Arg110=) rs751122249

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