ClinVar Miner

List of variants studied for Waardenburg syndrome type 2A by Center for Human Genetics, Inc

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000248.3(MITF):c.328C>T (p.Arg110Ter) rs1553702006
NM_000248.3(MITF):c.348G>A (p.Met116Ile) rs1032758072
NM_000248.3(MITF):c.409_410delinsCC (p.Leu137Pro) rs1553702406
NM_000248.3(MITF):c.632T>C (p.Leu211Pro) rs1553704097
NM_000248.3(MITF):c.668G>A (p.Arg223His) rs763119975
NM_000248.3(MITF):c.676G>A (p.Glu226Lys) rs147682682
NM_000248.3(MITF):c.710+4A>C rs1553704850
NM_000248.3(MITF):c.751G>A (p.Val251Met) rs1271000541
NM_000248.3(MITF):c.763C>T (p.Arg255Ter) rs1057517966

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