ClinVar Miner

List of variants in gene PITPNM3 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_031220.4(PITPNM3):c.2355G>A (p.Pro785=) rs146899730 0.00062
NM_031220.4(PITPNM3):c.987G>A (p.Leu329=) rs148451236 0.00061
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.507C>A (p.Phe169Leu) rs367702668 0.00019
NM_031220.4(PITPNM3):c.2700C>T (p.Arg900=) rs139901820 0.00013
NM_031220.4(PITPNM3):c.747G>A (p.Lys249=) rs371282530 0.00004
NM_031220.4(PITPNM3):c.1478G>A (p.Arg493Gln) rs727504085 0.00001

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