List of variants reported as uncertain significance for TH-deficient dopa-responsive dystonia by Revvity Omics, Revvity

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.1334+3G>C	rs371566928	0.00024
NM_000360.4(TH):c.13G>A (p.Asp5Asn)	rs777016570	0.00006
NM_000360.4(TH):c.1402G>A (p.Val468Met)	rs1800033	0.00004
NM_000360.4(TH):c.794G>A (p.Arg265Gln)	rs199961079	0.00004
NM_000360.4(TH):c.5C>T (p.Pro2Leu)	rs139474171	0.00001
NM_000360.4(TH):c.1285T>C (p.Ser429Pro)
NM_000360.4(TH):c.1462A>G (p.Thr488Ala)
NM_000360.4(TH):c.308T>C (p.Phe103Ser)
NM_000360.4(TH):c.617T>C (p.Ile206Thr)

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