ClinVar Miner

List of variants reported as benign for Revesz syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) rs10141326 0.06408
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp) rs17102313 0.03737
NM_001099274.3(TINF2):c.-266G>A rs35886534 0.00868
NM_001099274.3(TINF2):c.-260G>C rs28372734 0.00732
NM_001099274.3(TINF2):c.-91C>T rs36124829 0.00557
NM_001099274.3(TINF2):c.-225G>A rs35781178 0.00421
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577 0.00410
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) rs117234138 0.00329
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg) rs189265179 0.00163
NM_001099274.3(TINF2):c.771C>T (p.His257=) rs75124018 0.00106
NM_001099274.3(TINF2):c.-172A>C rs11557911 0.00033
NM_001099274.3(TINF2):c.1290C>G (p.Pro430=) rs201083863 0.00024
NM_001099274.3(TINF2):c.*91T>C rs183352266 0.00019
NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val) rs369249473 0.00008
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg) rs367835995 0.00006
NM_001099274.3(TINF2):c.318G>C (p.Lys106Asn) rs765992492 0.00005
NM_001099274.3(TINF2):c.*33C>T rs777445803 0.00004
NM_001099274.3(TINF2):c.507+5C>T rs761308889 0.00004
NM_001099274.3(TINF2):c.253C>G (p.His85Asp) rs758462532 0.00001

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