ClinVar Miner

List of variants reported as benign for inherited renal tubular disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (192):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=) rs11225584 0.10418
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870 0.02821
NM_020800.3(IFT80):c.462G>A (p.Ala154=) rs34182424 0.02371
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738 0.02353
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969 0.02244
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170 0.01817
NM_001377.3(DYNC2H1):c.2818+13T>C rs150786504 0.01790
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=) rs116666272 0.01688
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062 0.01583
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468 0.01568
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613 0.01532
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947 0.01339
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117 0.01205
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489 0.01113
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_173551.5(ANKS6):c.585G>A (p.Leu195=) rs75634918 0.00976
NM_173551.5(ANKS6):c.1767G>A (p.Ala589=) rs115807585 0.00974
NM_001377.3(DYNC2H1):c.4968+18G>A rs144263658 0.00894
NM_001377.3(DYNC2H1):c.1485+19G>A rs111375449 0.00764
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135 0.00760
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) rs115480556 0.00689
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=) rs117178504 0.00672
NM_000341.4(SLC3A1):c.892-6C>G rs114640930 0.00651
NM_001377.3(DYNC2H1):c.7198A>G (p.Ile2400Val) rs114292876 0.00632
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934 0.00628
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr) rs61737514 0.00612
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=) rs144624858 0.00606
NM_001377.3(DYNC2H1):c.10966A>G (p.Met3656Val) rs151156076 0.00599
NM_001377.3(DYNC2H1):c.27G>T (p.Arg9=) rs113537035 0.00594
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=) rs78599571 0.00555
NM_020800.3(IFT80):c.2139T>C (p.Asp713=) rs16831157 0.00485
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00476
NM_001377.3(DYNC2H1):c.5442C>T (p.Pro1814=) rs76833922 0.00476
NM_001377.3(DYNC2H1):c.6477+14A>T rs111970770 0.00460
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu) rs142881106 0.00365
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=) rs202082545 0.00344
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=) rs146630359 0.00260
NM_020800.3(IFT80):c.777+20A>G rs192387448 0.00217
NM_001377.3(DYNC2H1):c.6478-17C>T rs61899765 0.00172
NM_001377.3(DYNC2H1):c.1661+16T>C rs187129481 0.00164
NM_001377.3(DYNC2H1):c.12566+17A>G rs187787132 0.00113
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) rs79832792 0.00057
NM_020800.3(IFT80):c.933A>G (p.Thr311=) rs138798955 0.00020
NM_000341.4(SLC3A1):c.1136+3del rs796262035
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_173551.5(ANKS6):c.2203C>G (p.Pro735Ala) rs79414550

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