ClinVar Miner

List of variants in gene TAP2 reported as uncertain significance for MHC class I deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000544.3(TAP2):c.100G>A (p.Gly34Arg)
NM_000544.3(TAP2):c.1318G>T (p.Ala440Ser)
NM_000544.3(TAP2):c.1334C>T (p.Ser445Phe)
NM_000544.3(TAP2):c.1373C>T (p.Thr458Met)
NM_000544.3(TAP2):c.1588G>A (p.Asp530Asn)
NM_000544.3(TAP2):c.1655A>G (p.Glu552Gly)
NM_000544.3(TAP2):c.1714G>A (p.Glu572Lys)
NM_000544.3(TAP2):c.1720G>A (p.Asp574Asn)
NM_000544.3(TAP2):c.1769A>G (p.Gln590Arg)
NM_000544.3(TAP2):c.1776G>A (p.Met592Ile) rs147150415
NM_000544.3(TAP2):c.1852G>T (p.Ala618Ser)
NM_000544.3(TAP2):c.1909C>A (p.Leu637Ile) rs752068310
NM_000544.3(TAP2):c.1933-6_1933-3del
NM_000544.3(TAP2):c.2005G>A (p.Ala669Thr)
NM_000544.3(TAP2):c.359G>T (p.Ser120Ile) rs932756573
NM_000544.3(TAP2):c.460G>T (p.Ala154Ser) rs1562339896
NM_000544.3(TAP2):c.818G>A (p.Arg273Gln)
NM_000544.3(TAP2):c.848G>C (p.Gly283Ala) rs1278521116

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