ClinVar Miner

List of variants reported as benign for hypothyroidism, congenital, nongoitrous by Illumina Laboratory Services, Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000369.5(TSHR):c.*1152T>A rs2288494 0.85456
NM_000369.5(TSHR):c.*245C>T rs7144481 0.85116
NM_003466.4(PAX8):c.*2309A>G rs1077855 0.75160
NM_003466.4(PAX8):c.*2478C>T rs2019137 0.41441
NM_003466.4(PAX8):c.*2146A>G rs895412 0.41369
NM_000369.5(TSHR):c.*1417T>C rs2288496 0.39155
NM_000369.5(TSHR):c.*1222G>C rs2288495 0.39107
NM_003466.4(PAX8):c.*1914C>G rs874898 0.32930
NM_003466.4(PAX8):c.*1006A>C rs1479 0.29017
NM_003466.4(PAX8):c.*1044A>C rs1478 0.28084
NM_000369.5(TSHR):c.*431T>C rs17630128 0.26762
NM_000369.5(TSHR):c.561T>C (p.Asn187=) rs2075179 0.26593
NM_000369.5(TSHR):c.545+13A>G rs2241119 0.26331
NM_003466.4(PAX8):c.*1000T>C rs1049137 0.18892
NM_000369.5(TSHR):c.*172C>A rs2268477 0.16427
NM_000369.5(TSHR):c.*909C>T rs2288493 0.15203
NM_000369.5(TSHR):c.154C>A (p.Pro52Thr) rs2234919 0.04384
NM_003466.4(PAX8):c.1143C>T (p.Ser381=) rs145036350 0.00516

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