ClinVar Miner

List of variants reported as benign for Sheldon-hall syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610 0.82025
NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr) rs2285477 0.69723
NM_002470.4(MYH3):c.1581+13A>C rs2285468 0.63294
NM_002470.4(MYH3):c.2151C>A (p.Gly717=) rs876657 0.58590
NM_002470.4(MYH3):c.4731C>T (p.Ile1577=) rs2285479 0.57510
NM_002470.4(MYH3):c.2532A>G (p.Ala844=) rs2285469 0.57316
NM_002470.4(MYH3):c.2166-15A>G rs876660 0.57314
NM_002470.4(MYH3):c.2916A>G (p.Thr972=) rs2285472 0.57294
NM_002470.4(MYH3):c.2926-12A>G rs2285473 0.57289
NM_002470.4(MYH3):c.2952T>C (p.Ser984=) rs2285474 0.57288
NM_002470.4(MYH3):c.3348T>C (p.Ile1116=) rs201626 0.14064
NM_006757.4(TNNT3):c.762C>T (p.Gly254=) rs4727 0.12344
NM_002470.4(MYH3):c.2106C>T (p.Gly702=) rs56259391 0.05968
NM_002470.4(MYH3):c.2610A>G (p.Lys870=) rs56163389 0.05967
NM_006757.4(TNNT3):c.636T>C (p.Ile212=) rs16927166 0.03978
NM_002470.4(MYH3):c.5457+3G>A rs200954595 0.02449
NM_002470.4(MYH3):c.6T>C (p.Ser2=) rs17817203 0.02219
NM_002470.4(MYH3):c.3008C>T (p.Ala1003Val) rs34088014 0.02195
NM_002470.4(MYH3):c.4155A>G (p.Glu1385=) rs58343499 0.02173
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241 0.02138
NM_002470.4(MYH3):c.4128C>T (p.Tyr1376=) rs112569418 0.01571
NM_002470.4(MYH3):c.699C>T (p.Asn233=) rs16943604 0.01272
NM_002470.4(MYH3):c.349-7C>T rs114366800 0.01261
NM_002470.4(MYH3):c.3009G>A (p.Ala1003=) rs61735353 0.01244
NM_006757.4(TNNT3):c.367-9T>C rs76471485 0.00859
NM_002470.4(MYH3):c.774G>A (p.Lys258=) rs16943598 0.00793
NM_002470.4(MYH3):c.3726T>C (p.Ser1242=) rs77946261 0.00792
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_002470.4(MYH3):c.453C>T (p.Ala151=) rs7214436 0.00621
NM_003282.4(TNNI2):c.150G>A (p.Pro50=) rs139820259 0.00584
NM_002470.4(MYH3):c.1575C>T (p.Ile525=) rs34695778 0.00528
NM_003282.4(TNNI2):c.453+3G>A rs200300133 0.00354
NM_002470.4(MYH3):c.2683-4T>C rs182229640 0.00350
NM_003282.4(TNNI2):c.*94C>T rs117830156 0.00349
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys) rs12941197 0.00245
NM_006757.4(TNNT3):c.*36C>T rs147535560 0.00188
NM_006757.4(TNNT3):c.480+10G>T rs188255267 0.00143
NM_003282.4(TNNI2):c.333A>G (p.Pro111=) rs201133081 0.00021
NM_006757.4(TNNT3):c.*86C>T rs200540491 0.00003
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln) rs145785711
NM_002470.4(MYH3):c.5254G>A (p.Ala1752Thr) rs34393601

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