ClinVar Miner

List of variants in gene PITPNM3 reported as likely benign for cone-rod dystrophy 5

Included ClinVar conditions (1):
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_031220.4(PITPNM3):c.699C>T (p.Val233=) rs149964592 0.00707
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430 0.00628
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_031220.4(PITPNM3):c.*3132T>A rs570730657 0.00197
NM_031220.4(PITPNM3):c.1671C>T (p.Tyr557=) rs74748737 0.00041
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met) rs139119218 0.00030
NM_031220.4(PITPNM3):c.1124C>T (p.Pro375Leu) rs138671220 0.00022
NM_031220.4(PITPNM3):c.576G>A (p.Ser192=) rs145362623 0.00021
NM_031220.4(PITPNM3):c.507C>A (p.Phe169Leu) rs367702668 0.00019
NM_031220.4(PITPNM3):c.914C>T (p.Ala305Val) rs145148072 0.00011
NM_031220.4(PITPNM3):c.351+15G>A rs549825421 0.00009
NM_031220.4(PITPNM3):c.1019G>A (p.Arg340Gln) rs144563288 0.00006
NM_031220.4(PITPNM3):c.1018C>T (p.Arg340Trp) rs776506570 0.00005
NM_031220.4(PITPNM3):c.243G>A (p.Pro81=) rs773821376 0.00005
NM_031220.4(PITPNM3):c.1086-5C>T rs775491788 0.00004
NM_031220.4(PITPNM3):c.747G>A (p.Lys249=) rs371282530 0.00004
NM_031220.4(PITPNM3):c.853G>A (p.Asp285Asn) rs751707041 0.00004
NM_031220.4(PITPNM3):c.915G>A (p.Ala305=) rs373564103 0.00004
NM_031220.4(PITPNM3):c.1538G>A (p.Arg513His) rs548588951 0.00002
NM_031220.4(PITPNM3):c.1942C>T (p.Pro648Ser) rs141159316 0.00001
NM_031220.4(PITPNM3):c.368G>A (p.Arg123His) rs762779113

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