ClinVar Miner

List of variants reported as likely benign for hypothyroidism, congenital, nongoitrous

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp) rs1991517 0.90865
NM_003466.4(PAX8):c.*187A>G rs78802229 0.05117
NM_000369.5(TSHR):c.*1813T>A rs58832257 0.02711
NM_000369.5(TSHR):c.*474G>T rs61266735 0.02495
NM_003466.4(PAX8):c.*627T>A rs111411733 0.01952
NM_000369.5(TSHR):c.2232C>G (p.Asn744Lys) rs61743974 0.01750
NM_000369.5(TSHR):c.*18C>A rs77789619 0.01748
NM_003466.4(PAX8):c.985T>C (p.Phe329Leu) rs3188996 0.01628
NM_000549.5(TSHB):c.-13A>G rs77331078 0.01269
NM_000369.5(TSHR):c.*1289A>G rs150122093 0.01236
NM_000369.5(TSHR):c.106G>C (p.Asp36His) rs61747482 0.00505
NM_001555.5(IGSF1):c.668-8G>A rs181264169 0.00322
NM_003466.4(PAX8):c.1317A>G (p.Ala439=) rs368201100 0.00299
NM_003466.4(PAX8):c.404A>G (p.Lys135Arg) rs190431939 0.00146
NM_003466.4(PAX8):c.215G>A (p.Arg72Gln) rs769138605 0.00032
NM_003466.4(PAX8):c.1242C>T (p.Ser414=) rs200817352 0.00029
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=) rs374150672 0.00023
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr) rs368366482 0.00013
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser) rs374652916 0.00006
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=) rs754229011 0.00006
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=) rs376792087 0.00006
NM_000549.5(TSHB):c.223A>G (p.Arg75Gly) rs201857310 0.00003
NM_003466.4(PAX8):c.709G>C (p.Glu237Gln) rs199890664 0.00002
NM_003466.4(PAX8):c.1139C>T (p.Thr380Ile) rs987647241 0.00001
NM_000369.5(TSHR):c.1377G>A (p.Ala459=) rs113951800

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