ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive disease by SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln) rs199738915 0.00011
NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn) rs199924410 0.00009
NM_170784.3(MKKS):c.7C>T (p.Arg3Cys) rs779042065 0.00004
NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln) rs370716101 0.00003
NM_001177701.3(IFT27):c.319G>A (p.Ala107Thr) rs576803886 0.00001
NM_015102.5(NPHP4):c.1880C>T (p.Thr627Met) rs199891059 0.00001
NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser) rs560329867 0.00001
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg) rs771456483 0.00001
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser) rs151199924 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_000092.5(COL4A4):c.2624del (p.Pro875fs)
NM_001144758.3(PHLDB1):c.2603G>A (p.Arg868His)
NM_001347.4(DGKQ):c.200C>T (p.Thr67Met)
NM_001378454.1(ALMS1):c.10234G>T (p.Ala3412Ser) rs1454233838
NM_004758.4(TSPOAP1):c.25C>T (p.Arg9Trp)
NM_006044.4(HDAC6):c.1121C>G (p.Ala374Gly)
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_015102.5(NPHP4):c.2126A>G (p.Asp709Gly)
NM_015102.5(NPHP4):c.2290G>A (p.Ala764Thr)
NM_015662.3(IFT172):c.199T>C (p.Tyr67His)
NM_015662.3(IFT172):c.3808A>C (p.Lys1270Gln)
NM_017777.4(MKS1):c.1505C>G (p.Ser502Trp) rs758838271
NM_017777.4(MKS1):c.466G>A (p.Val156Ile)
NM_020366.4(RPGRIP1):c.2669G>C (p.Arg890Pro)
NM_020366.4(RPGRIP1):c.337C>G (p.Leu113Val)
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
NM_024685.4(BBS10):c.733T>G (p.Phe245Val)
NM_031885.5(BBS2):c.383T>C (p.Leu128Ser)
NM_144596.4(TTC8):c.747del (p.Lys249fs)
NM_152384.3(BBS5):c.25G>A (p.Glu9Lys) rs1363954560
NM_152384.3(BBS5):c.682-1G>A
NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del) rs758008862
NM_170784.3(MKKS):c.1184A>G (p.His395Arg)
NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr) rs2122219712
NM_170784.3(MKKS):c.1526A>T (p.Asn509Ile)
NM_176824.3(BBS7):c.446A>C (p.Asp149Ala)
NM_176824.3(BBS7):c.758G>A (p.Gly253Glu)
NM_198428.3(BBS9):c.557A>G (p.Tyr186Cys)
NM_206933.4(USH2A):c.14537C>T (p.Ser4846Phe)
NM_206933.4(USH2A):c.8324T>G (p.Val2775Gly)

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