ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330 0.00036
NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys) rs146250226 0.00026
NM_153240.5(NPHP3):c.2172-4A>G rs375032661 0.00020
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534 0.00014
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val) rs202048210 0.00011
NM_153240.5(NPHP3):c.3592C>T (p.Pro1198Ser) rs550670844 0.00008
NM_153240.5(NPHP3):c.3032C>T (p.Ala1011Val) rs202145723 0.00006
NM_153240.5(NPHP3):c.3062C>T (p.Ala1021Val) rs759153335 0.00006
NM_153240.5(NPHP3):c.2531A>G (p.Tyr844Cys) rs752254827 0.00003
NM_153240.5(NPHP3):c.3339C>A (p.Asp1113Glu) rs768124745 0.00003
NM_153240.5(NPHP3):c.3205G>A (p.Gly1069Arg) rs752118322 0.00002
NM_153240.5(NPHP3):c.3226C>T (p.Arg1076Trp) rs553665584 0.00001
NM_153240.5(NPHP3):c.3237G>C (p.Gln1079His) rs764287266 0.00001
NM_153240.5(NPHP3):c.3287T>C (p.Leu1096Pro) rs777276873 0.00001
NM_153240.5(NPHP3):c.3422T>C (p.Leu1141Pro) rs1057521090 0.00001
NM_153240.5(NPHP3):c.3499C>T (p.Arg1167Cys) rs201135796 0.00001
NM_153240.5(NPHP3):c.3563A>G (p.Lys1188Arg) rs772079066 0.00001
NM_153240.5(NPHP3):c.-3G>T
NM_153240.5(NPHP3):c.1145C>A (p.Ala382Asp)
NM_153240.5(NPHP3):c.1550T>C (p.Val517Ala)
NM_153240.5(NPHP3):c.1642C>G (p.Gln548Glu)
NM_153240.5(NPHP3):c.2098C>G (p.Leu700Val)
NM_153240.5(NPHP3):c.2171G>A (p.Arg724His) rs1064797063
NM_153240.5(NPHP3):c.2258A>G (p.His753Arg) rs1939405994
NM_153240.5(NPHP3):c.3094G>A (p.Ala1032Thr)
NM_153240.5(NPHP3):c.3326T>G (p.Leu1109Arg) rs369704665
NM_153240.5(NPHP3):c.3330-3C>T
NM_153240.5(NPHP3):c.3627A>C (p.Lys1209Asn) rs1163759024
NM_153240.5(NPHP3):c.3764G>A (p.Arg1255Gln)
NM_153240.5(NPHP3):c.3776G>A (p.Arg1259Gln)
NM_153240.5(NPHP3):c.3964_3966del (p.Asn1322del) rs779824626
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg) rs766285779

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