ClinVar Miner

List of variants studied for Bartter disease type 2 by Revvity Omics, Revvity

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_153766.3(KCNJ1):c.521C>T (p.Thr174Met) rs117535913 0.00039
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_153766.3(KCNJ1):c.-9A>G
NM_153766.3(KCNJ1):c.215G>C (p.Ser72Thr)
NM_153766.3(KCNJ1):c.505C>A (p.Arg169Ser) rs138120505
NM_153766.3(KCNJ1):c.80A>G (p.Asp27Gly)

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