ClinVar Miner

List of variants in gene PRICKLE2 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly) rs148689951 0.00097
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644 0.00064
NM_198859.4(PRICKLE2):c.1962G>A (p.Leu654=) rs367685080 0.00019
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=) rs200220646 0.00014
NM_198859.4(PRICKLE2):c.1937A>G (p.Asp646Gly) rs533891439 0.00007
NM_198859.4(PRICKLE2):c.2275A>C (p.Asn759His) rs565155814 0.00006
NM_198859.4(PRICKLE2):c.330C>T (p.Arg110=) rs751122249 0.00006
NM_198859.4(PRICKLE2):c.2219C>T (p.Ser740Phe) rs760799226 0.00004
NM_198859.4(PRICKLE2):c.123G>A (p.Pro41=) rs727504106 0.00002
NM_198859.4(PRICKLE2):c.229C>G (p.Leu77Val) rs765702961 0.00002
NM_198859.4(PRICKLE2):c.1047G>T (p.Glu349Asp) rs776851070 0.00001
NM_198859.4(PRICKLE2):c.1190G>A (p.Arg397Gln) rs550384726 0.00001
NM_198859.4(PRICKLE2):c.1707A>G (p.Arg569=) rs751284871 0.00001
NM_198859.4(PRICKLE2):c.2356A>C (p.Asn786His) rs886042720 0.00001
NM_198859.4(PRICKLE2):c.516G>A (p.Leu172=) rs727504105 0.00001
NM_198859.4(PRICKLE2):c.880G>A (p.Gly294Arg) rs765912174 0.00001
NM_198859.4(PRICKLE2):c.758A>T (p.Glu253Val) rs886042423

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