ClinVar Miner

List of variants studied for congenital hypothyroidism by Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429 0.00049
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000441.2(SLC26A4):c.1280C>A (p.Ser427Tyr) rs765939287
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.703C>T (p.Gln235Ter) rs2129311961
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_005219.5(DIAPH1):c.1838dup (p.Pro614fs) rs2154596304
NM_020982.4(CLDN9):c.500dup (p.Trp168fs) rs1567404609
NM_194248.3(OTOF):c.2983T>C (p.Cys995Arg) rs1265540448

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