ClinVar Miner

List of variants in gene SMCHD1 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 3
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HGVS dbSNP
GRCh38/hg38 18p11.32(chr18:2770295-2816145)x3
NM_015295.2(SMCHD1):c.5006G>T (p.Arg1669Leu) rs368367743
NM_015295.2(SMCHD1):c.758T>C (p.Ile253Thr) rs1057518622

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