ClinVar Miner

List of variants reported for Global developmental delay by Claritas Genomics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu) rs142289138 0.00062
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786 0.00041
NM_004667.6(HERC2):c.12757G>A (p.Ala4253Thr) rs145535698 0.00024
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) rs901081235 0.00002
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp) rs748333558 0.00002
NM_001371986.1(UNC80):c.400G>A (p.Gly134Ser) rs764575721 0.00001
NM_024570.4(RNASEH2B):c.136+8C>T rs891972892 0.00001
NM_001134407.3(GRIN2A):c.1778-3C>T rs1060499722
NM_001370658.1(BTD):c.164C>A (p.Ala55Asp) rs1060499720
NM_016373.4(WWOX):c.1222C>G (p.Arg408Gly) rs144234059
NM_021971.4(GMPPB):c.529A>G (p.Ile177Val) rs1060499721

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