ClinVar Miner

List of variants in gene combination LOC129937586, NPHP3, NPHP3-ACAD11 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857 0.00085
NM_153240.5(NPHP3):c.118C>T (p.Leu40=) rs374281831 0.00026
NM_153240.5(NPHP3):c.276G>C (p.Glu92Asp) rs143930288 0.00026
NM_153240.5(NPHP3):c.273C>T (p.Tyr91=) rs780683528 0.00007
NM_153240.5(NPHP3):c.141A>T (p.Arg47=) rs774866337 0.00006
NM_153240.5(NPHP3):c.255G>A (p.Glu85=) rs146839563 0.00006
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281 0.00003
NM_153240.5(NPHP3):c.45G>T (p.Val15=) rs768083433 0.00003
NM_153240.5(NPHP3):c.208C>T (p.Leu70=) rs765533675 0.00001
NM_153240.5(NPHP3):c.237G>A (p.Ser79=) rs555921512 0.00001
NM_153240.5(NPHP3):c.132G>C (p.Ser44=)
NM_153240.5(NPHP3):c.150G>A (p.Gly50=)
NM_153240.5(NPHP3):c.152C>T (p.Ala51Val) rs577583077
NM_153240.5(NPHP3):c.156A>C (p.Ala52=) rs913198504
NM_153240.5(NPHP3):c.156A>G (p.Ala52=)
NM_153240.5(NPHP3):c.162G>A (p.Gly54=) rs2108008005
NM_153240.5(NPHP3):c.171C>G (p.Pro57=) rs778581370
NM_153240.5(NPHP3):c.171C>T (p.Pro57=) rs778581370
NM_153240.5(NPHP3):c.180G>A (p.Leu60=)
NM_153240.5(NPHP3):c.186C>T (p.Arg62=)
NM_153240.5(NPHP3):c.198G>T (p.Ala66=)
NM_153240.5(NPHP3):c.207G>A (p.Leu69=)
NM_153240.5(NPHP3):c.210G>A (p.Leu70=)
NM_153240.5(NPHP3):c.240G>C (p.Ser80=)
NM_153240.5(NPHP3):c.249G>A (p.Glu83=) rs1940246811
NM_153240.5(NPHP3):c.48C>A (p.Ile16=) rs760044628
NM_153240.5(NPHP3):c.57G>A (p.Thr19=)
NM_153240.5(NPHP3):c.57G>T (p.Thr19=)
NM_153240.5(NPHP3):c.60C>T (p.Tyr20=)
NM_153240.5(NPHP3):c.66G>T (p.Ala22=)
NM_153240.5(NPHP3):c.75C>G (p.Gly25=) rs746955224

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