ClinVar Miner

List of variants in gene combination AXDND1, NPHS2 reported as uncertain significance by Counsyl

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln) rs369697947 0.00018
NM_014625.4(NPHS2):c.795-12T>G rs376637418 0.00003
NM_014625.4(NPHS2):c.872G>A (p.Arg291Gln) rs751767084 0.00003
NM_014625.4(NPHS2):c.979C>T (p.Leu327Phe) rs748203170 0.00001
NM_014625.4(NPHS2):c.1012_1023del (p.Val338_Pro341del) rs1553312282
NM_014625.4(NPHS2):c.1129_1134del (p.Lys377_Lys378del) rs1553312159
NM_014625.4(NPHS2):c.770G>A (p.Gly257Glu) rs1553313479
NM_014625.4(NPHS2):c.934C>G (p.Leu312Val) rs1553312393
NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln) rs776859868

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