ClinVar Miner

List of variants studied for inherited renal tubular disease by Precision Medicine Center, Zhengzhou University

Included ClinVar conditions (192):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_015102.5(NPHP4):c.1462C>T (p.Arg488Ter) rs778043242 0.00009
NM_015102.5(NPHP4):c.2039C>T (p.Thr680Met) rs370238544 0.00007
NM_024753.5(TTC21B):c.3664C>T (p.Arg1222Trp) rs749330118 0.00003
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter) rs758716466 0.00002
NM_024753.5(TTC21B):c.1552T>C (p.Cys518Arg) rs1378821369 0.00001
NM_024753.5(TTC21B):c.1A>G (p.Met1Val) rs1435376086 0.00001
NM_024753.5(TTC21B):c.256A>C (p.Asn86His) rs773555238 0.00001
NM_025132.4(WDR19):c.1993G>C (p.Ala665Pro) rs753976268 0.00001
NM_001128178.3(NPHP1):c.361_362dup (p.Ser121fs)
NM_015102.5(NPHP4):c.3062del (p.Gln1021fs)
NM_015102.5(NPHP4):c.4237_4249del (p.Asp1413fs)
NM_024753.5(TTC21B):c.2211+3A>G
NM_024753.5(TTC21B):c.262G>T (p.Asp88Tyr)
NM_024753.5(TTC21B):c.380C>T (p.Ala127Val)
NM_024753.5(TTC21B):c.497del (p.Lys166fs) rs2105363277
NM_024753.5(TTC21B):c.553-2A>T
NM_024753.5(TTC21B):c.752T>G (p.Met251Arg)
NM_025132.4(WDR19):c.2489G>A (p.Gly830Glu)
NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val) rs775281384
NM_153240.5(NPHP3):c.748C>T (p.Gln250Ter)
NM_153704.6(TMEM67):c.224-3del rs587779735
NM_153704.6(TMEM67):c.520G>C (p.Glu174Gln) rs2130585385
NM_173551.5(ANKS6):c.1617G>A (p.Met539Ile)
NM_173551.5(ANKS6):c.2394+1G>A
NM_173551.5(ANKS6):c.651dup (p.Asn218fs)
NM_173551.5(ANKS6):c.887T>C (p.Ile296Thr)

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