ClinVar Miner

List of variants studied for Revesz syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_001099274.3(TINF2):c.*53G>A rs886050429
NM_001099274.3(TINF2):c.*91T>C rs183352266
NM_001099274.3(TINF2):c.-161G>A rs577503785
NM_001099274.3(TINF2):c.-172A>C rs11557911
NM_001099274.3(TINF2):c.-223C>G rs886050434
NM_001099274.3(TINF2):c.-225G>A rs35781178
NM_001099274.3(TINF2):c.-260G>C rs28372734
NM_001099274.3(TINF2):c.-266G>A rs35886534
NM_001099274.3(TINF2):c.-277C>G rs886050435
NM_001099274.3(TINF2):c.-50A>G rs886050432
NM_001099274.3(TINF2):c.-91C>T rs36124829
NM_001099274.3(TINF2):c.-93T>C rs886050433
NM_001099274.3(TINF2):c.1074T>C (p.Asp358=) rs886050430
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) rs10141326
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) rs117234138
NM_001099274.3(TINF2):c.1290C>G (p.Pro430=) rs201083863
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg) rs189265179
NM_001099274.3(TINF2):c.400-5del rs769170035
NM_001099274.3(TINF2):c.507+5C>T rs761308889
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg) rs367835995
NM_001099274.3(TINF2):c.682C>T (p.His228Tyr) rs886050431
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp) rs17102313
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala) rs202093758
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln) rs779837822
NM_001099274.3(TINF2):c.771C>T (p.His257=) rs75124018
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) rs199422322
NM_012461.3(TINF2):c.-316G>A rs886050436

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