ClinVar Miner

List of variants studied for Chediak-Higashi syndrome by GeneReviews

Included ClinVar conditions (1):
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000081.2(LYST):c.7060_7066delCTATTAG rs80338661
NM_000081.3(LYST):c.9107_9162del (p.Gly3036Glufs)
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) rs80338669
NM_000081.4(LYST):c.10395del (p.Gly3466fs) rs80338670
NM_000081.4(LYST):c.11102G>T (p.Cys3701Phe)
NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)
NM_000081.4(LYST):c.118dup (p.Ala40fs) rs80338642
NM_000081.4(LYST):c.1467del (p.Glu489fs) rs80338644
NM_000081.4(LYST):c.148C>T (p.Arg50Ter) rs80338643
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter) rs80338645
NM_000081.4(LYST):c.1902dup (p.Ala635fs) rs80338646
NM_000081.4(LYST):c.2413del (p.Glu805fs) rs80338647
NM_000081.4(LYST):c.2454del (p.Ala819fs) rs80338648
NM_000081.4(LYST):c.2623del (p.Tyr875fs) rs80338649
NM_000081.4(LYST):c.3073_3074del (p.Asn1025fs) rs80338650
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.4(LYST):c.3434dup (p.His1145fs)
NM_000081.4(LYST):c.3622C>T (p.Gln1208Ter)
NM_000081.4(LYST):c.3944dup (p.Val1316fs)
NM_000081.4(LYST):c.4052C>G (p.Ser1351Ter) rs80338654
NM_000081.4(LYST):c.4274del (p.Leu1425fs) rs80338656
NM_000081.4(LYST):c.4361C>A (p.Ala1454Asp) rs80338655
NM_000081.4(LYST):c.4688G>A (p.Arg1563His) rs80338657
NM_000081.4(LYST):c.5061T>A (p.Tyr1687Ter) rs80338658
NM_000081.4(LYST):c.5317del (p.Arg1773fs) rs80338659
NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)
NM_000081.4(LYST):c.5541_5542del (p.Arg1848fs)
NM_000081.4(LYST):c.5996T>A (p.Val1999Asp) rs28942077
NM_000081.4(LYST):c.6078C>A (p.Tyr2026Ter) rs80338660
NM_000081.4(LYST):c.7555del (p.Tyr2519fs) rs80338662
NM_000081.4(LYST):c.772T>C (p.Cys258Arg)
NM_000081.4(LYST):c.7982C>G (p.Ser2661Ter)
NM_000081.4(LYST):c.8281A>T (p.Arg2761Ter)
NM_000081.4(LYST):c.8428G>A (p.Glu2810Lys) rs80338663
NM_000081.4(LYST):c.8583G>A (p.Trp2861Ter) rs80338664
NM_000081.4(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077delinsPhePheGlnTer) rs80338666
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
NM_000081.4(LYST):c.9590del (p.Tyr3197fs) rs80338667
NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
NM_000081.4(LYST):c.9893del (p.Phe3298fs) rs80338668

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