ClinVar Miner

List of variants reported as uncertain significance for Silver-Russell syndrome 5

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003483.6(HMGA2):c.198+1G>A	rs1241586108	0.00001
GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)
NM_003483.6(HMGA2):c.111+6T>A	rs2498929974
NM_003483.6(HMGA2):c.249+3_249+6del	rs2498945771

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