ClinVar Miner

List of variants studied for Senior-Loken syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01140
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_001128178.3(NPHP1):c.*194T>C rs189472793 0.00318
NM_001128178.3(NPHP1):c.771+59G>A rs143174377 0.00203
NM_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_001128178.3(NPHP1):c.*250C>T rs150558683 0.00139
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) rs140469160 0.00088
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=) rs141763330 0.00039
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys) rs149887461 0.00033
NM_001128178.3(NPHP1):c.771+89A>G rs139787582 0.00023
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) rs371112962 0.00019
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu) rs138181219 0.00018
NM_000272.3(NPHP1):c.-54C>T rs777453061 0.00009
NM_000272.4(NPHP1):c.*460T>A rs960612307 0.00008
NM_001128178.3(NPHP1):c.1761+5A>C rs201030203 0.00006
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=) rs200631256 0.00005
NM_001128178.3(NPHP1):c.*238T>C rs897567205 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser) rs769509705 0.00002
NM_001128178.3(NPHP1):c.*322A>G rs886054752 0.00001
NM_001128178.3(NPHP1):c.-17G>A rs566875282 0.00001
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr) rs147090619 0.00001
NM_001128178.3(NPHP1):c.1716+15T>C rs368590150 0.00001
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=) rs767719020 0.00001
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=) rs548684868 0.00001
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=) rs143163969 0.00001
NM_001128178.3(NPHP1):c.*199A>G rs1679131109
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys) rs375907280
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln) rs886054753
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys) rs1212780955
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu) rs573192954
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=) rs1679799639
NM_001128178.3(NPHP1):c.1717-5T>G rs1679303713
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp) rs538690900
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=) rs977347524
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys) rs1408606648
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser) rs886054756
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=) rs886054755
NM_001128178.3(NPHP1):c.771+148G>T rs753796140
NM_001128178.3(NPHP1):c.771+178C>T rs767903893
NM_001128178.3(NPHP1):c.772-5T>C rs201478764
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg) rs886054754

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