ClinVar Miner

List of variants in gene NPHP1 studied for Joubert syndrome

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000272.4(NPHP1):c.*250C>T rs150558683
NM_000272.4(NPHP1):c.*322A>G rs886054752
NM_000272.4(NPHP1):c.*333_*335AAC[1] rs555468187
NM_000272.4(NPHP1):c.1035A>G (p.Gln345=) rs371112962
NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile) rs140469160
NM_000272.4(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys) rs375907280
NM_000272.4(NPHP1):c.1447G>C (p.Glu483Gln) rs886054753
NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys) rs149887461
NM_000272.4(NPHP1):c.1690G>C (p.Val564Leu) rs573192954
NM_000272.4(NPHP1):c.1889C>T (p.Ser630Leu) rs138181219
NM_000272.4(NPHP1):c.2100C>T (p.Gly700=) rs200631256
NM_000272.4(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000272.4(NPHP1):c.456A>G (p.Ser152=) rs143163969
NM_000272.4(NPHP1):c.593A>G (p.Asn198Ser) rs886054756
NM_000272.4(NPHP1):c.635_637AAG[5] (p.Glu215dup) rs777677768
NM_000272.4(NPHP1):c.654G>A (p.Glu218=) rs11675767
NM_000272.4(NPHP1):c.669C>T (p.Gly223=) rs886054755
NM_000272.4(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_000272.4(NPHP1):c.830G>A (p.Arg277Gln) rs143174377
NM_000272.4(NPHP1):c.860A>G (p.Asn287Ser) rs139787582
NM_000272.4(NPHP1):c.969G>A (p.Thr323=) rs141763330
NM_000272.4(NPHP1):c.971T>C (p.Met324Thr) rs114250691
NM_000272.4(NPHP1):c.988G>C (p.Gly330Arg) rs886054754
NPHP1, DEL

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