ClinVar Miner

List of variants studied for mucocutaneous ulceration, chronic

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_021975.4(RELA):c.871G>A (p.Asp291Asn) rs61759893 0.00402
NM_021975.4(RELA):c.8-10C>T rs200603499 0.00104
NM_021975.4(RELA):c.1080T>C (p.Tyr360=) rs149145548 0.00032
NM_021975.4(RELA):c.596T>C (p.Val199Ala) rs145138143 0.00004
NM_021975.4(RELA):c.559+8G>T rs1190765527 0.00001
NM_021975.4(RELA):c.1006dup (p.Arg336fs)
NM_021975.4(RELA):c.1008C>T (p.Arg336=) rs763729954
NM_021975.4(RELA):c.1114C>T (p.Gln372Ter)
NM_021975.4(RELA):c.1310C>G (p.Ser437Ter)
NM_021975.4(RELA):c.1459del (p.His487fs)
NM_021975.4(RELA):c.559+1G>A rs1565191003
NM_021975.4(RELA):c.592C>T (p.Arg198Ter) rs1326268854
NM_021975.4(RELA):c.985C>T (p.Arg329Ter) rs1193014025

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