ClinVar Miner

List of variants reported as likely benign by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) rs201683984 0.00236
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959 0.00097
NM_001065.4(TNFRSF1A):c.789T>C (p.Thr263=) rs201290189 0.00069
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=) rs147075345 0.00020
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
NM_000435.3(NOTCH3):c.499C>T (p.Pro167Ser) rs202157633 0.00014
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=) rs375752426 0.00011
NM_000335.5(SCN5A):c.3388-7T>C rs41310769 0.00009
NM_000518.5(HBB):c.316-179A>C rs185607297 0.00009
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189 0.00006
NM_000335.5(SCN5A):c.1281C>T (p.Thr427=) rs375989197 0.00004
NM_000435.3(NOTCH3):c.825G>A (p.Val275=) rs138837495 0.00004
NM_000243.3(MEFV):c.1758T>C (p.Asn586=) rs202228332 0.00003
NM_000431.4(MVK):c.700C>T (p.Leu234=) rs199909816 0.00003
NM_000335.5(SCN5A):c.2667C>T (p.Leu889=) rs587781162 0.00002
NM_000335.5(SCN5A):c.2886C>T (p.Ala962=) rs544057915 0.00002
NM_000518.5(HBB):c.93-40C>T rs556727592 0.00002
NM_000243.3(MEFV):c.540G>C (p.Pro180=) rs104895139 0.00001
NM_000335.5(SCN5A):c.5772C>G (p.Ser1924=) rs199687668 0.00001
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712 0.00001
NM_000431.4(MVK):c.945G>A (p.Leu315=) rs752469036 0.00001
NM_000492.4(CFTR):c.1845A>G (p.Lys615=) rs1792032957 0.00001
NM_000335.5(SCN5A):c.4296+9C>A rs572950088
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000435.3(NOTCH3):c.120C>T (p.Ala40=) rs146904189
NM_000435.3(NOTCH3):c.579A>C (p.Leu193=)
NM_000435.3(NOTCH3):c.849C>T (p.Asn283=)
NM_000518.4(HBB):c.-92C>G rs397515291
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
NM_000518.5(HBB):c.4G>A (p.Val2Met) rs33958358
NM_001065.4(TNFRSF1A):c.714G>A (p.Arg238=) rs200376188

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