ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive disease by Daryl Scott Lab, Baylor College of Medicine

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser) rs138070797 0.00234
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) rs142872154 0.00097
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_004525.3(LRP2):c.3364A>G (p.Ile1122Val) rs149853330 0.00056
NM_001145026.2(PTPRQ):c.1847A>G (p.Gln616Arg) rs527967292 0.00030
NM_004525.3(LRP2):c.5686G>A (p.Val1896Ile) rs139705387 0.00012
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp) rs747833963 0.00009
NM_015102.5(NPHP4):c.2306A>T (p.His769Leu) rs200821373 0.00006
NM_005876.5(SPEG):c.5897G>C (p.Gly1966Ala) rs759849782 0.00004
NM_006118.4(HAX1):c.376C>T (p.Arg126Trp) rs765538745 0.00004
NM_005876.5(SPEG):c.418G>A (p.Asp140Asn) rs202151661 0.00003
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys) rs199634446 0.00001
NM_000382.3(ALDH3A2):c.1443+1274_1443+1275del
NM_004525.3(LRP2):c.3608T>C (p.Val1203Ala) rs2105386662
NM_004525.3(LRP2):c.9230C>T (p.Pro3077Leu) rs2105305609
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg) rs200991790
NM_017721.5(CC2D1A):c.1276G>A (p.Val426Met) rs200445152
NM_133379.5(TTN):c.11106G>C (p.Leu3702Phe)
NM_207361.6(FREM2):c.215T>C (p.Ile72Thr)

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