ClinVar Miner

List of variants reported as benign for Chediak-Higashi syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_000081.3(LYST):c.10800+4G>T rs41308172
NM_000081.3(LYST):c.10941-7C>A rs72761794
NM_000081.3(LYST):c.1251A>G (p.Gln417=) rs1063128
NM_000081.3(LYST):c.153A>C (p.Gly51=) rs11464
NM_000081.3(LYST):c.1683A>G (p.Leu561=) rs3820553
NM_000081.3(LYST):c.2316C>T (p.Asp772=) rs16832868
NM_000081.3(LYST):c.2908A>C (p.Ile970Leu)
NM_000081.3(LYST):c.3050G>A (p.Ser1017Asn) rs10465613
NM_000081.3(LYST):c.3359G>T (p.Ser1120Ile) rs143223086
NM_000081.3(LYST):c.368A>G (p.His123Arg)
NM_000081.3(LYST):c.3989A>C (p.Asp1330Ala) rs74641549
NM_000081.3(LYST):c.4956A>G (p.Leu1652=) rs6696123
NM_000081.3(LYST):c.5291G>C (p.Gly1764Ala) rs35413645
NM_000081.3(LYST):c.5373G>A (p.Lys1791=) rs2273584
NM_000081.3(LYST):c.574T>G (p.Leu192Val) rs7524261
NM_000081.3(LYST):c.5847G>C (p.Gln1949His) rs6665568
NM_000081.3(LYST):c.5945C>T (p.Thr1982Ile) rs146591126
NM_000081.3(LYST):c.6292G>A (p.Ala2098Thr)
NM_000081.3(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_000081.3(LYST):c.6630A>G (p.Glu2210=) rs34466404
NM_000081.3(LYST):c.6782G>A (p.Arg2261His) rs147791378
NM_000081.3(LYST):c.6812A>G (p.Asp2271Gly) rs112601869
NM_000081.3(LYST):c.6900G>A (p.Leu2300=) rs10926586
NM_000081.3(LYST):c.7059+7G>A rs111764031
NM_000081.3(LYST):c.7137A>C (p.Leu2379=) rs61738992
NM_000081.3(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241
NM_000081.3(LYST):c.7857T>C (p.His2619=) rs34160788
NM_000081.3(LYST):c.8411G>A (p.Gly2804Asp) rs35333195
NM_000081.3(LYST):c.8487C>T (p.Ile2829=)
NM_000081.3(LYST):c.8898T>C (p.Tyr2966=)
NM_000081.3(LYST):c.9C>T (p.Thr3=) rs33998267
NM_001301365.1(LYST):c.11268-5del rs36014994

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